(used for variant description)
(last modified August 13, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001042424.2 in the WHSC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering WHSC1 transcript NM_001042424.2.
(upstream sequence)
. . . . . g.5056
gccgcgcgcgagagcctcggcctggccgcgctgcgcccgccgccgccgccgccccc c.-121
. . . . . . g.5116
tccccgcctgggccctaccgccgcacggccccggccccctcccagcctgccgctccggag c.-61
. . . . | 02 . . g.34259
agccgcccgccgaggatgcgacgcaccgcag | tgttctaagaacggaagcatctgggctgg c.-1
. . . . . . g.34319
ATGGAATTTAGCATCAAGCAGAGTCCCCTTTCTGTTCAGAGTGTTGTAAAGTGCATAAAG c.60
M E F S I K Q S P L S V Q S V V K C I K p.20
. . . . . . g.34379
ATGAAGCAGGCACCAGAAATCCTCGGCAGTGCCAACGGGAAGACTCCGAGCTGCGAGGTG c.120
M K Q A P E I L G S A N G K T P S C E V p.40
. . . . . . g.34439
AACCGCGAGTGTTCTGTGTTCCTCAGCAAAGCCCAGCTCTCCAGTAGCCTGCAGGAGGGG c.180
N R E C S V F L S K A Q L S S S L Q E G p.60
. . . . . . g.34499
GTCATGCAGAAGTTTAACGGCCACGACGCCCTGCCCTTTATTCCAGCCGACAAGCTGAAA c.240
V M Q K F N G H D A L P F I P A D K L K p.80
. . . . . . g.34559
GATCTTACTTCCCGGGTGTTTAATGGAGAACCCGGCGCACACGATGCCAAACTGCGTTTT c.300
D L T S R V F N G E P G A H D A K L R F p.100
. . . . . . g.34619
GAGTCCCAGGAAATGAAAGGGATTGGGACACCCCCTAACACTACCCCTATCAAAAATGGC c.360
E S Q E M K G I G T P P N T T P I K N G p.120
. . . . . . g.34679
TCTCCAGAAATTAAGCTGAAAATCACCAAAACATACATGAATGGGAAGCCTCTCTTTGAA c.420
S P E I K L K I T K T Y M N G K P L F E p.140
. . . . . . g.34739
TCTTCCATTTGTGGTGACAGTGCTGCTGATGTGTCTCAGTCAGAAGAAAATGGACAAAAA c.480
S S I C G D S A A D V S Q S E E N G Q K p.160
. . . . . . g.34799
CCAGAAAACAAGGCGAGAAGGAACAGGAAGAGGAGCATAAAATATGACTCCTTGCTGGAG c.540
P E N K A R R N R K R S I K Y D S L L E p.180
. . . . . | 03. g.37823
CAGGGCCTTGTCGAAGCAGCTCTTGTGTCTAAGATCTCAAGTCCTTCAGATAAAAAG | ATT c.600
Q G L V E A A L V S K I S S P S D K K | I p.200
. . . . . . g.37883
CCAGCTAAGAAAGAGTCTTGTCCAAACACTGGAAGAGACAAAGACCACCTGTTGAAATAC c.660
P A K K E S C P N T G R D K D H L L K Y p.220
. . . . . . g.37943
AACGTTGGTGATTTGGTGTGGTCCAAAGTGTCGGGTTACCCTTGGTGGCCTTGCATGGTT c.720
N V G D L V W S K V S G Y P W W P C M V p.240
. . . . | 04 . . g.50495
TCTGCAGATCCACTCCTTCACAGCTATACCAAACTTAAAG | GTCAGAAAAAGAGTGCACGC c.780
S A D P L L H S Y T K L K G | Q K K S A R p.260
. . . . . . g.50555
CAGTATCACGTACAGTTCTTTGGTGACGCCCCAGAAAGAGCTTGGATATTTGAGAAGAGC c.840
Q Y H V Q F F G D A P E R A W I F E K S p.280
. . . . . . g.50615
CTCGTAGCTTTTGAAGGAGAAGGACAGTTTGAAAAATTATGCCAGGAAAGTGCCAAGCAG c.900
L V A F E G E G Q F E K L C Q E S A K Q p.300
. . | 05. . . . g.51778
GCACCCACGAAAGCTGAGAAAATTAAG | CTATTGAAACCAATTTCAGGGAAATTGAGGGCC c.960
A P T K A E K I K | L L K P I S G K L R A p.320
. . . . . . g.51838
CAGTGGGAAATGGGCATTGTTCAAGCAGAAGAAGCTGCAAGCATGTCAGTGGAGGAGCGG c.1020
Q W E M G I V Q A E E A A S M S V E E R p.340
. . . . . . g.51898
AAAGCCAAGTTCACCTTTCTCTATGTGGGGGACCAGCTTCATCTCAACCCTCAAGTAGCC c.1080
K A K F T F L Y V G D Q L H L N P Q V A p.360
. . . . . . g.51958
AAGGAGGCTGGCATTGCTGCAGAGTCTTTGGGAGAAATGGCAGAATCCTCAGGAGTCAGT c.1140
K E A G I A A E S L G E M A E S S G V S p.380
. . . . . . g.52018
GAAGAAGCTGCTGAAAACCCCAAGTCTGTGAGAGAAGAGTGCATTCCCATGAAGAGAAGG c.1200
E E A A E N P K S V R E E C I P M K R R p.400
. . . . . . g.52078
CGGAGGGCCAAACTGTGTAGCTCTGCAGAGACCCTGGAGAGTCACCCCGACATAGGGAAG c.1260
R R A K L C S S A E T L E S H P D I G K p.420
. . . . . . g.52138
AGTACTCCTCAAAAGACGGCAGAGGCTGACCCCAGAAGAGGAGTAGGGTCTCCTCCTGGG c.1320
S T P Q K T A E A D P R R G V G S P P G p.440
. . . . . . g.52198
AGGAAGAAGACCACAGTCTCCATGCCACGAAGCAGGAAGGGAGATGCAGCATCCCAGTTT c.1380
R K K T T V S M P R S R K G D A A S Q F p.460
. . . | 06 . . . g.64260
TTGGTCTTCTGTCAAAAACACAGGGATGAG | GTGGTAGCTGAGCACCCAGATGCTTCAGGT c.1440
L V F C Q K H R D E | V V A E H P D A S G p.480
. . . . . . g.64320
GAGGAGATTGAAGAGCTGCTCAGGTCACAGTGGAGTCTGCTGAGTGAGAAGCAGAGAGCA c.1500
E E I E E L L R S Q W S L L S E K Q R A p.500
. . . . . | 07 . g.68753
CGCTACAACACCAAGTTTGCCCTGGTGGCCCCTGTCCAGGCTGAAGAAGACTCTG | GTAAT c.1560
R Y N T K F A L V A P V Q A E E D S G | N p.520
. . . . . . g.68813
GTAAATGGGAAAAAAAGAAACCACACAAAGAGGATACAGGACCCTACAGAAGATGCTGAA c.1620
V N G K K R N H T K R I Q D P T E D A E p.540
. . . . . | 08 . g.72061
GCTGAGGACACACCCAGGAAAAGACTCAGGACGGACAAGCACAGTCTTCGGAAG | AGAGAC c.1680
A E D T P R K R L R T D K H S L R K | R D p.560
. . . . . . g.72121
ACAATCACTGACAAAACGGCCAGAACAAGCTCTTACAAGGCCATGGAGGCAGCCTCCTCG c.1740
T I T D K T A R T S S Y K A M E A A S S p.580
. | 09 . . . . . g.73302
CTCAAGAGCCAGGCAG | CAACGAAAAATCTGTCTGATGCATGTAAACCACTGAAGAAGCGA c.1800
L K S Q A A | T K N L S D A C K P L K K R p.600
. . . . . . g.73362
AATCGGGCTTCCACGGCAGCATCTTCAGCTCTTGGGTTTAGCAAAAGTTCATCTCCTTCT c.1860
N R A S T A A S S A L G F S K S S S P S p.620
. . | 10 . . . . g.84715
GCATCCTTAACTGAGAATGAG | GTCTCGGACAGCCCGGGAGACGAGCCCTCGGAGTCCCCA c.1920
A S L T E N E | V S D S P G D E P S E S P p.640
. . . . . . g.84775
TACGAAAGTGCAGACGAAACACAAACTGAAGTATCTGTCTCATCCAAAAAGTCTGAGCGA c.1980
Y E S A D E T Q T E V S V S S K K S E R p.660
. . . | 11 . . . g.85739
GGAGTGACTGCCAAAAAGGAGTATGTGTGCCAG | CTGTGTGAGAAGCCGGGCAGCCTCCTG c.2040
G V T A K K E Y V C Q | L C E K P G S L L p.680
. . . . . . g.85799
CTCTGTGAAGGACCCTGCTGCGGAGCTTTCCACCTCGCCTGCCTTGGGCTTTCCCGGAGG c.2100
L C E G P C C G A F H L A C L G L S R R p.700
. . . | 12. . . g.86951
CCAGAAGGGAGGTTCACCTGCAGCGAGTGTGCCTCAG | GGATTCACTCATGTTTCGTGTGT c.2160
P E G R F T C S E C A S G | I H S C F V C p.720
. . . . . . g.87011
AAAGAGAGCAAGACAGATGTTAAGCGCTGTGTGGTAACTCAGTGTGGAAAATTTTACCAT c.2220
K E S K T D V K R C V V T Q C G K F Y H p.740
. . . . . . g.87071
GAGGCTTGTGTGAAAAAATACCCTCTGACTGTATTTGAGAGCCGAGGTTTCCGCTGCCCC c.2280
E A C V K K Y P L T V F E S R G F R C P p.760
. . . . . | 13 g.88767
CTCCACAGCTGTGTGAGCTGCCATGCTTCCAACCCTTCAAACCCAAGGCCGTCAAAAG | GT c.2340
L H S C V S C H A S N P S N P R P S K G | p.780
. . . . . . g.88827
AAAATGATGCGGTGTGTCCGCTGCCCCGTTGCCTATCACAGCGGGGATGCTTGTCTGGCA c.2400
K M M R C V R C P V A Y H S G D A C L A p.800
. . . . . . g.88887
GCAGGATGCTCAGTGATCGCCTCCAACAGCATCATCTGCACTGCCCACTTCACTGCTCGG c.2460
A G C S V I A S N S I I C T A H F T A R p.820
. . . . . | 14 g.89299
AAGGGGAAGCGACACCACGCCCACGTCAACGTGAGCTGGTGCTTCGTGTGCTCCAAAG | GG c.2520
K G K R H H A H V N V S W C F V C S K G | p.840
. . . . . . g.89359
GGGAGCCTTCTGTGCTGTGAGTCCTGCCCAGCGGCCTTCCACCCTGACTGCCTGAACATC c.2580
G S L L C C E S C P A A F H P D C L N I p.860
. . . . . . g.89419
GAGATGCCTGACGGCAGCTGGTTCTGCAATGACTGCAGGGCTGGGAAGAAGCTGCACTTC c.2640
E M P D G S W F C N D C R A G K K L H F p.880
. . . | 15 . . . g.89612
CAGGATATCATTTGGGTGAAACTTGGGAACTACAG | ATGGTGGCCGGCAGAAGTTTGCCAT c.2700
Q D I I W V K L G N Y R | W W P A E V C H p.900
. . . . . . g.89672
CCCAAAAATGTTCCCCCAAATATTCAGAAAATGAAGCACGAGATTGGAGAATTCCCTGTG c.2760
P K N V P P N I Q K M K H E I G E F P V p.920
. . . . . . g.89732
TTTTTCTTTGGGTCTAAAGATTATTACTGGACGCATCAGGCGCGAGTGTTCCCGTACATG c.2820
F F F G S K D Y Y W T H Q A R V F P Y M p.940
. . . . . . g.89792
GAGGGGGACCGGGGCAGCCGCTACCAGGGGGTCAGAGGGATCGGAAGAGTCTTCAAAAAC c.2880
E G D R G S R Y Q G V R G I G R V F K N p.960
| 16 . . . . . . g.91596
G | CACTGCAAGAAGCTGAAGCTCGTTTTCGTGAAATTAAGCTTCAGAGGGAAGCCCGAGAA c.2940
A | L Q E A E A R F R E I K L Q R E A R E p.980
. . . . | 17 . . g.93090
ACACAGGAGAGCGAGCGCAAGCCCCCACCATACAAGCACATCAAG | GTGAATAAGCCTTAC c.3000
T Q E S E R K P P P Y K H I K | V N K P Y p.1000
. . . . . . g.93150
GGGAAAGTCCAGATCTACACAGCGGATATTTCAGAAATCCCTAAGTGCAACTGCAAGCCC c.3060
G K V Q I Y T A D I S E I P K C N C K P p.1020
. . . . . . g.93210
ACAGATGAGAATCCTTGTGGCTTTGATTCGGAGTGTCTGAACAGGATGCTGATGTTTGAG c.3120
T D E N P C G F D S E C L N R M L M F E p.1040
. . . . . . g.93270
TGCCACCCGCAGGTGTGTCCCGCGGGCGAGTTCTGCCAGAACCAGTGCTTCACCAAGCGC c.3180
C H P Q V C P A G E F C Q N Q C F T K R p.1060
. . . . . . g.93330
CAGTACCCAGAGACCAAGATCATCAAGACAGATGGCAAAGGGTGGGGCCTGGTCGCCAAG c.3240
Q Y P E T K I I K T D G K G W G L V A K p.1080
. | 18 . . . . . g.94684
AGGGACATCAGAAAG | GGAGAATTTGTTAACGAGTACGTTGGGGAGCTGATCGACGAGGAG c.3300
R D I R K | G E F V N E Y V G E L I D E E p.1100
. . . . . . g.94744
GAGTGCATGGCGAGAATCAAGCACGCACACGAGAACGACATCACCCACTTCTACATGCTC c.3360
E C M A R I K H A H E N D I T H F Y M L p.1120
. | 19 . . . . . g.108515
ACTATAGACAAG | GACCGTATAATAGACGCTGGCCCCAAAGGAAACTACTCTCGATTTATG c.3420
T I D K | D R I I D A G P K G N Y S R F M p.1140
. . . . . . g.108575
AATCACAGCTGCCAGCCCAACTGTGAGACCCTCAAGTGGACAGTGAATGGGGACACTCGT c.3480
N H S C Q P N C E T L K W T V N G D T R p.1160
. . . | 20 . . . g.108924
GTGGGCCTGTTTGCCGTCTGTGACATTCCTGCAG | GGACGGAGCTGACTTTTAACTACAAC c.3540
V G L F A V C D I P A G | T E L T F N Y N p.1180
. . . . . . g.108984
CTCGATTGTCTGGGCAATGAAAAAACGGTCTGCCGGTGTGGAGCCTCCAATTGCAGTGGA c.3600
L D C L G N E K T V C R C G A S N C S G p.1200
. . | 21 . . . . g.110118
TTCCTCGGGGATAGACCAAAG | ACCTCGACGACCCTTTCATCAGAGGAAAAGGGCAAAAAG c.3660
F L G D R P K | T S T T L S S E E K G K K p.1220
. . . . . . g.110178
ACCAAGAAGAAAACGAGGCGGCGCAGAGCAAAAGGGGAAGGGAAGAGGCAGTCAGAGGAC c.3720
T K K K T R R R R A K G E G K R Q S E D p.1240
. . . . . . g.110238
GAGTGCTTCCGCTGCGGTGATGGCGGGCAGCTGGTGCTGTGTGACCGCAAGTTCTGCACC c.3780
E C F R C G D G G Q L V L C D R K F C T p.1260
. . . . | 22 . . g.112256
AAGGCCTACCACCTGTCCTGCCTGGGCCTTGGCAAGCGGCCCTTCG | GGAAGTGGGAATGT c.3840
K A Y H L S C L G L G K R P F G | K W E C p.1280
. . . . . . g.112316
CCTTGGCATCATTGTGACGTGTGTGGCAAACCTTCGACTTCATTTTGCCACCTCTGCCCC c.3900
P W H H C D V C G K P S T S F C H L C P p.1300
. . . . . . g.112376
AATTCGTTCTGTAAGGAGCACCAGGACGGGACAGCCTTCAGCTGCACCCCGGACGGGCGG c.3960
N S F C K E H Q D G T A F S C T P D G R p.1320
. . . . . . g.112436
TCCTACTGCTGTGAGCATGACTTAGGGGCGGCATCGGTCAGAAGCACCAAGACTGAGAAG c.4020
S Y C C E H D L G A A S V R S T K T E K p.1340
. . . . . . g.112496
CCCCCCCCAGAGCCAGGGAAGCCGAAGGGGAAGAGGCGGCGGCGGAGGGGCTGGCGGAGA c.4080
P P P E P G K P K G K R R R R R G W R R p.1360
. g.112514
GTCACAGAGGGCAAATAG c.4098
V T E G K X p.1365
. . . . . . g.112574
cgccaggcggccgcttggccggatccaggggcggtgcagggcggccggccctgcctgcgg c.*60
. . . . . . g.112634
gagagggcgagcatgaactggcccggaggacccagctcgagccgccaggacacagacgta c.*120
. . . . . . g.112694
caggcctcctcgggagggagcgcctccccaccactgagccatcctcagcagcgtccgctg c.*180
. . . . . . g.112754
cgtctgcactgatgaccgtctgagcccagctcagcgttcctggacaaacagcctcactcc c.*240
. . . . . . g.112814
tcagcgttaccgccacacttgaatttctccgaatgtcaaggttccctcccactctatttt c.*300
. . . . . . g.112874
tttaggttaaagttaattggcatatggaatgttttaatctcctctgaaatgtgtagcgta c.*360
. . . . . . g.112934
ggcttttcccaagggtcgctagaaactcgtcttcgcgttgccccctttctggctctcagc c.*420
. . . . . . g.112994
gccgtcgccactcgggagaggctgggtgaggcccgtgtgaggactgaccctggattcctc c.*480
. . . . . . g.113054
gaaactgccattgtgatcattactctgctctttggaaatggctgtatcatttttttgtac c.*540
. . . . . . g.113114
taatgtgaattgttcctcagaaacgcttcttttccatcctagtgagaagctggccctgca c.*600
. . . . . . g.113174
ggtggtggcagcaatggtgttgtaagatttcctcccgtagttttttctcctcatggattt c.*660
. . . . . . g.113234
gaatgaaatgccaataacacgtccactttcaacgtgtagtttacgcggagcactttcgag c.*720
. . . . . . g.113294
gcctggccgggttgggcctacttctcacctgggcctatcttctgaactcgctaggttctt c.*780
. . . . . . g.113354
atcaacatttgggggataactttgtatatttttttcatttggcttttctttaccagtttc c.*840
. . . . . . g.113414
tgatttttattctcaatatatttttgctaaacctatttcacaaatcaccaccgactgaag c.*900
. . . . . . g.113474
tgtgtgtttactgatgcggccctgagctccatggcgaaaggagtgactttgcagggcgtg c.*960
. . . . . . g.113534
agaccgcagtctgcttagagcacaggaagtgacaacttagggagccccgtagggcgctgc c.*1020
. . . . . . g.113594
aggccccggggaccccagcacgtgggtctaaagagagacggagtctagctctcctgccac c.*1080
. . . . . . g.113654
ccagagtggcttccatctcagcactctgtgggtctggtgatggaagatgcagtctctgct c.*1140
. . . . . . g.113714
gatcacatgtgccctctgccagggcacctactgagaggtgcggtcctgggggtggaggcc c.*1200
. . . . . . g.113774
tgcctggcaggtgtgcgtgcctcgtacgtgtgttatgggcactggtctaggccaggtatg c.*1260
. . . . . . g.113834
acacccactctcctgtgagatttcactttagtttttaaaaggtccagttctacagagtga c.*1320
. . . . . . g.113894
gacctatctatctgagtactacatatgttttaagacttggttctttttttgagggatcct c.*1380
. . . . . . g.113954
tgaccctgggaagtctggagcaccctgagaagggggcaccatgtgtgcctttgcccacgt c.*1440
. . . . . . g.114014
gtcctgaggggctgcttgtctgggagggagggagagaacattcagcagcaggtgcttttt c.*1500
. . . . . . g.114074
tatggccttttcttaaaataacctaagggggacacatccatcttgcagagaagtttacag c.*1560
. . . . . . g.114134
aactccccttgaaaactgctgctgaggctcctgttaaattttctgtggcatcttttatgc c.*1620
. . . . . . g.114194
cttggtaaaaactgcagtgtctttggacctgagagtggctactccgtggttttgtgacct c.*1680
. . . . . . g.114254
gtaagcgtggggttcaggggtgtgtggccctgcagggtcccacgcctccctgagcactga c.*1740
. . . . . . g.114314
ctggaagtttcactggctggtggctgtcccttctcccatcagggtccccagcaaagttaa c.*1800
. . . . . . g.114374
ctacacagaggacccaggggaaacgagctgtgtagccactgacttgctcgcgcggccgtg c.*1860
. . . . . . g.114434
gcctctgaggggcactcgccggttaagacagggtgggagtagtgctttccagttcagact c.*1920
. . . . . . g.114494
ctaacttctcccaaagtgtcctaagaaaatactggatcggctcatagatttatgctcctt c.*1980
. . . . . . g.114554
atgatgccctaacttggaaggttgttctagggacaggccgggcagtgtccccacacacac c.*2040
. . . . . . g.114614
cttagagtcgaaggccccagggccccgctgtcacttgcccaaaagatcccttccggcagg c.*2100
. . . . . . g.114674
taagggactaccaatgcttacgtcaaaacagcagaatcggctttgcagtgcactttgggg c.*2160
. . . . . . g.114734
agcagatattaacttatttttgtgttggacagtagtgaaatcttgtgatttttaatcgct c.*2220
. . . . . . g.114794
ttgataatacttccaaattttatgatttttctgaaggaaataatgcaaacattttaaata c.*2280
. . . . . . g.114854
tgtttctccccctttccaaaaactgttaaactaatgagcaagtaacactaactttgaatg c.*2340
. . . . . . g.114914
tctctacaatacccgttgataactcagtggagccaggctttggggtagcggccctgagct c.*2400
. . . . . . g.114974
tgcagggtttctcgccactggggctgaccacgcccccagctgtgaccgtgggtgtggctg c.*2460
. . . . . . g.115034
gctctcggccctgcccagctttgttctgaggacgtggtgacttcctgaacatcagcttca c.*2520
. . . . . . g.115094
atcctccatcattaatgtgaagcaaaacacaaaaaccgccccaatccctcaggattcctt c.*2580
. . . . . . g.115154
ggcatccgaaaccagcatctgcacctaaacccatacccacccgtgtgcgcccacaggggg c.*2640
. . . . . . g.115214
atgtgtccgaatgggcagcttaaaatgtggtcacctgtgggggaaactcttcaggcacct c.*2700
. . . . . . g.115274
gaagtgagaacccagctgtccgtcctcaggccggcctttcttccggcgacacccgtccat c.*2760
. . . . . . g.115334
ggctggctgggtccccttcgcagtgtttgtctgtcttgacatctaaaccccggcgtgtgc c.*2820
. . . . . . g.115394
agtgcccatcttccaggactaccttattttccagaattaaacctgttttataattcaagt c.*2880
. . . . . . g.115454
taatgcaaatgactgtcagttgccaaatatcttgatcctatgagtgtagttgatgactgt c.*2940
. . . . . . g.115514
ttgttagtcagtagagtaaaatgctgtgtccacggggtgtcacagcctcaccataccctg c.*3000
. . . . . . g.115574
ttgaggtgtgaaatgccccgtcagaaattaaatacaaacttaaatgtgcctattggtgtc c.*3060
. . . . . . g.115634
taaacttcatacaatgtaaggtcagattccttttaggaatactgggtgctgtcaccaggt c.*3120
. . . . . . g.115694
ttgatagttagacttaaaaacttgaaattcactttttggggggagggatatactgaaata c.*3180
. . . . . . g.115754
gagagttgagacttgccagttgggggaaaatagcatttaaaatggaaagctgtgtttgga c.*3240
. . . . . g.115812
aaattgtgtatgagtatttttgtattaaaaacattttaaaggcttttttcttaactta c.*3298
(downstream sequence)
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