(used for variant description)
(last modified June 17, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_005862.2 in the STAG1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering STAG1 transcript NM_005862.2.
(upstream sequence)
. . . . . g.5052
ccggacccaagtctgcagcggcgccattggcgtgtggaaaatgccaccagat c.-241
. . . . . . g.5112
ggcgggttaggattgcagctccgttgaaggcgcggcccccgctcccgaacccccggcgac c.-181
. . . . . . g.5172
caccccgtaacaacccccccacatcgggaataacacaccggagacttttggggggaaact c.-121
. . . . | 02 . . g.126445
aggtcgatggtcggcggcgcccggatgggcagctgag | gattgcctttgaggttattttaa c.-61
. . . . . . g.126505
aagttttgagttgtacagcacttgattattttgctgcattgtgaaaggacctctccagca c.-1
. . | 03 . . . g.134186
ATGATTACTTCAGAATTACCAGTGTTACA | GGATTCAACTAATGAAACTACTGCCCATTCC c.60
M I T S E L P V L Q | D S T N E T T A H S p.20
. . . . . . g.134246
GATGCTGGCAGCGAGCTTGAAGAAACAGAGGTCAAAGGAAAAAGAAAAAGGGGTCGTCCT c.120
D A G S E L E E T E V K G K R K R G R P p.40
. | 04 . . . . . g.152978
GGCCGGCCTCCA | TCTACAAATAAGAAACCTCGAAAATCTCCAGGTGAGAAGAGCAGAATT c.180
G R P P | S T N K K P R K S P G E K S R I p.60
. . . . . . g.153038
GAAGCTGGAATTAGAGGAGCAGGCCGTGGAAGAGCTAATGGACACCCTCAACAGAATGGG c.240
E A G I R G A G R G R A N G H P Q Q N G p.80
. . . . . | 05. g.188545
GAAGGGGAGCCTGTCACATTATTTGAGGTGGTGAAACTGGGGAAAAGTGCAATGCAG | TCC c.300
E G E P V T L F E V V K L G K S A M Q | S p.100
. . . . . . g.188605
GTGGTGGATGACTGGATTGAATCATATAAACAAGACAGGGACATCGCACTTCTGGATTTA c.360
V V D D W I E S Y K Q D R D I A L L D L p.120
. . . | 06 . . . g.215234
ATCAACTTTTTTATCCAGTGTTCAGGATGTCGAG | GTACTGTGAGAATAGAGATGTTTCGA c.420
I N F F I Q C S G C R G | T V R I E M F R p.140
. . . . . | 07 . g.235995
AATATGCAGAATGCAGAAATCATCAGAAAAATGACTGAAGAATTTGATGAG | GACAGTGGT c.480
N M Q N A E I I R K M T E E F D E | D S G p.160
. . . . . . g.236055
GATTATCCTCTTACCATGCCTGGACCTCAGTGGAAAAAATTTCGTTCAAACTTTTGTGAA c.540
D Y P L T M P G P Q W K K F R S N F C E p.180
. . . . . . g.236115
TTTATTGGAGTCCTGATTCGACAGTGTCAGTATAGCATAATTTATGATGAGTATATGATG c.600
F I G V L I R Q C Q Y S I I Y D E Y M M p.200
. . . . . . g.236175
GACACAGTAATCTCCCTTTTGACGGGTTTGTCAGACTCCCAGGTCAGAGCTTTTAGGCAT c.660
D T V I S L L T G L S D S Q V R A F R H p.220
. | 08 . . . . . g.254668
ACAAGTACCCTGGCTG | CCATGAAGCTCATGACTGCTCTGGTGAATGTTGCCTTAAACCTC c.720
T S T L A A | M K L M T A L V N V A L N L p.240
. . . . . . g.254728
AGTATTCATCAGGATAATACCCAGAGACAATATGAAGCCGAGAGAAATAAAATGATTGGG c.780
S I H Q D N T Q R Q Y E A E R N K M I G p.260
. . . . | 09 . g.257119
AAGAGAGCCAATGAAAGGTTGGAGTTACTACTTCAGAAACGCAAAGAG | CTGCAAGAAAAT c.840
K R A N E R L E L L L Q K R K E | L Q E N p.280
. . . . . . g.257179
CAGGATGAAATCGAAAATATGATGAACTCTATTTTTAAGGGTATATTTGTTCATAGATAC c.900
Q D E I E N M M N S I F K G I F V H R Y p.300
| 10 . . . . . . g.280049
CG | TGATGCTATTGCTGAGATTAGAGCCATTTGTATTGAAGAAATTGGAGTATGGATGAAA c.960
R | D A I A E I R A I C I E E I G V W M K p.320
. . . . . . g.280109
ATGTATAGTGATGCCTTCCTAAATGACAGTTACCTAAAATATGTTGGCTGGACTCTTCAT c.1020
M Y S D A F L N D S Y L K Y V G W T L H p.340
| 11 . . . . . . g.283820
GACAGG | CAAGGGGAAGTCAGGCTGAAGTGTTTGAAAGCTCTGCAGAGTCTATATACCAAT c.1080
D R | Q G E V R L K C L K A L Q S L Y T N p.360
. . . . | 12 . . g.284926
AGAGAATTATTCCCCAAATTGGAACTATTCACTAACCGATTCAAG | GATCGCATTGTATCA c.1140
R E L F P K L E L F T N R F K | D R I V S p.380
. . . . . . g.284986
ATGACACTTGATAAAGAATATGATGTTGCTGTGGAAGCTATTCGATTGGTTACTCTGATA c.1200
M T L D K E Y D V A V E A I R L V T L I p.400
| 13 . . . . . . g.292470
CTTCA | TGGAAGTGAAGAAGCTCTTTCCAATGAAGACTGTGAAAATGTTTACCACTTGGTG c.1260
L H | G S E E A L S N E D C E N V Y H L V p.420
. . . . . | 14 . g.305263
TACTCGGCACATCGCCCTGTTGCTGTGGCAGCTGGAGAGTTCCTTCACAAAAA | GCTATTT c.1320
Y S A H R P V A V A A G E F L H K K | L F p.440
. . . . . . g.305323
AGCAGACATGACCCACAAGCAGAAGAAGCATTAGCAAAGAGGAGGGGAAGAAACAGCCCG c.1380
S R H D P Q A E E A L A K R R G R N S P p.460
. . . . | 15 . g.314011
AATGGAAACCTCATTAGGATGCTGGTTCTTTTCTTTCTTGAAAGTGAG | TTACATGAACAT c.1440
N G N L I R M L V L F F L E S E | L H E H p.480
. . . . . . g.314071
GCAGCCTACTTGGTGGACAGTTTATGGGAGAGCTCTCAAGAACTGTTGAAAGACTGGGAA c.1500
A A Y L V D S L W E S S Q E L L K D W E p.500
. . . . | 16 . . g.323758
TGTATGACAGAGTTGCTATTAGAAGAACCTGTTCAAGGAGAGGAAG | CAATGTCTGATCGT c.1560
C M T E L L L E E P V Q G E E A | M S D R p.520
. . . . . . g.323818
CAAGAGAGTGCTCTTATAGAGCTAATGGTTTGTACAATTCGTCAAGCTGCTGAGGCACAT c.1620
Q E S A L I E L M V C T I R Q A A E A H p.540
. . . | 17 . . . g.334389
CCTCCAGTGGGAAGGGGTACCGGCAAGAGA | GTGCTAACTGCCAAAGAAAGGAAAACTCAA c.1680
P P V G R G T G K R | V L T A K E R K T Q p.560
. . . . . . g.334449
ATTGATGATAGAAACAAATTGACTGAACATTTTATTATTACACTTCCTATGTTACTGTCA c.1740
I D D R N K L T E H F I I T L P M L L S p.580
| 18 . . . . . . g.334603
AAG | TATTCTGCAGATGCAGAGAAGGTAGCAAACTTGCTACAAATCCCACAGTATTTTGAT c.1800
K | Y S A D A E K V A N L L Q I P Q Y F D p.600
. . . | 19 . . . g.334817
TTAGAAATCTACAGCACAGGTAGAATGGAAAAG | CATCTGGATGCTTTATTAAAACAGATT c.1860
L E I Y S T G R M E K | H L D A L L K Q I p.620
. . . . . . g.334877
AAGTTTGTTGTGGAGAAACACGTAGAATCAGATGTTCTAGAAGCCTGCAGTAAAACCTAT c.1920
K F V V E K H V E S D V L E A C S K T Y p.640
. . . . . . g.334937
AGTATCTTATGCAGTGAAGAATATACCATCCAGAACAGAGTTGACATAGCTCGAAGCCAG c.1980
S I L C S E E Y T I Q N R V D I A R S Q p.660
. . . . . | 20. g.336243
CTGATTGATGAGTTTGTAGATCGATTCAATCATTCTGTGGAAGACCTATTGCAAGAG | GGA c.2040
L I D E F V D R F N H S V E D L L Q E | G p.680
. . . . . . g.336303
GAAGAAGCTGATGATGATGACATTTACAATGTTCTTTCTACATTAAAGCGGTTAACTTCT c.2100
E E A D D D D I Y N V L S T L K R L T S p.700
| 21 . . . . . g.339483
TTTCACAA | TGCACATGATCTCACAAAATGGGATCTCTTTGGTAATTGCTACAGATTATTG c.2160
F H N | A H D L T K W D L F G N C Y R L L p.720
. . . | 22 . . . g.358598
AAGACTGGAATTGAACATGGAGCCATGCCAGAACAG | ATAGTCGTGCAAGCACTGCAGTGT c.2220
K T G I E H G A M P E Q | I V V Q A L Q C p.740
. . . . . | 23. g.379654
TCCCATTATTCGATTCTTTGGCAGTTGGTGAAAATTACTGATGGCTCTCCTTCCAAA | GAG c.2280
S H Y S I L W Q L V K I T D G S P S K | E p.760
. . . . . . g.379714
GATTTGTTGGTATTGAGGAAAACGGTGAAATCCTTTTTGGCTGTTTGCCAGCAGTGCCTG c.2340
D L L V L R K T V K S F L A V C Q Q C L p.780
. . . | 24 . . . g.388151
TCTAATGTTAATACTCCAGTGAAAGAACAG | GCTTTCATGTTACTCTGTGATCTTCTGATG c.2400
S N V N T P V K E Q | A F M L L C D L L M p.800
. . . . . . g.388211
ATTTTCAGCCACCAATTAATGACAGGTGGCAGAGAGGGCCTTCAGCCTTTGGTGTTCAAT c.2460
I F S H Q L M T G G R E G L Q P L V F N p.820
. . . . . . g.388271
CCAGATACTGGACTCCAATCTGAACTCCTCAGTTTTGTGATGGATCACGTTTTTATTGAC c.2520
P D T G L Q S E L L S F V M D H V F I D p.840
. . | 25 . . . . g.390356
CAAGACGAGGAGAACCAGAGCATGG | AGGGTGATGAAGAAGATGAAGCTAATAAAATTGAG c.2580
Q D E E N Q S M E | G D E E D E A N K I E p.860
. . . . . . g.390416
GCCTTACATAAAAGAAGGAATCTACTTGCTGCTTTCAGCAAACTTATCATTTATGACATT c.2640
A L H K R R N L L A A F S K L I I Y D I p.880
. . . . | 26 . . g.393951
GTTGACATGCATGCAGCTGCAGACATCTTCAAACACTACATGAAG | TATTACAATGACTAT c.2700
V D M H A A A D I F K H Y M K | Y Y N D Y p.900
. . . . . . g.394011
GGTGATATTATTAAGGAAACACTGAGTAAAACCAGGCAGATTGATAAAATTCAGTGTGCC c.2760
G D I I K E T L S K T R Q I D K I Q C A p.920
. . | 27. . . . g.398140
AAGACTCTCATTCTCAGTTTGCAACAG | TTATTTAATGAACTTGTTCAAGAGCAAGGTCCC c.2820
K T L I L S L Q Q | L F N E L V Q E Q G P p.940
. . . . . . g.398200
AACCTAGATAGGACATCTGCCCATGTCAGTGGCATTAAAGAACTGGCACGTCGCTTTGCC c.2880
N L D R T S A H V S G I K E L A R R F A p.960
. . . . . | 28 . g.399559
CTTACATTTGGATTGGACCAGATTAAGACACGAGAAGCAGTTGCCACACTTCACAA | GGAT c.2940
L T F G L D Q I K T R E A V A T L H K | D p.980
. . . . . . g.399619
GGCATAGAGTTTGCATTTAAATACCAAAATCAGAAAGGACAAGAGTATCCACCTCCTAAT c.3000
G I E F A F K Y Q N Q K G Q E Y P P P N p.1000
. . . . . . g.399679
CTGGCTTTTCTTGAAGTACTAAGTGAATTTTCTTCTAAACTTCTTCGACAGGACAAAAAG c.3060
L A F L E V L S E F S S K L L R Q D K K p.1020
| 29 . . . . . . g.408095
ACAGT | TCATTCATACCTAGAGAAATTCCTTACCGAGCAGATGATGGAAAGGAGGGAGGAT c.3120
T V | H S Y L E K F L T E Q M M E R R E D p.1040
. . . . . . g.408155
GTATGGCTTCCACTCATCTCCTATAGAAATTCATTAGTCACTGGGGGTGAAGATGATAGA c.3180
V W L P L I S Y R N S L V T G G E D D R p.1060
. . . . . . g.408215
ATGTCTGTGAACAGTGGAAGTAGCAGCAGCAAAACCTCATCAGTAAGGAATAAGAAAGGA c.3240
M S V N S G S S S S K T S S V R N K K G p.1080
. . . | 30 . . . g.413426
CGACCTCCACTTCATAAAAAACGAGTAGAAG | ATGAGAGTCTGGATAACACATGGCTAAAC c.3300
R P P L H K K R V E D | E S L D N T W L N p.1100
. . . . . . g.413486
AGGACTGACACCATGATTCAGACTCCTGGCCCCCTGCCAGCACCACAACTCACATCCACT c.3360
R T D T M I Q T P G P L P A P Q L T S T p.1120
. . . . . . g.413546
GTACTGCGGGAGAACAGTCGGCCCATGGGAGACCAGATTCAAGAACCTGAGTCTGAACAT c.3420
V L R E N S R P M G D Q I Q E P E S E H p.1140
. . | 31 . . . . g.415886
GGTTCTGAACCAGACTTTTTACACAA | TCCTCAGATGCAGATCTCTTGGTTAGGCCAGCCG c.3480
G S E P D F L H N | P Q M Q I S W L G Q P p.1160
. . . . . . g.415946
AAGTTAGAAGACTTAAATCGGAAGGACAGAACAGGAATGAACTACATGAAAGTGAGAACT c.3540
K L E D L N R K D R T G M N Y M K V R T p.1180
. | 32. . . . . g.416841
GGAGTGAGGCATGCTGT | TCGGGGTCTAATGGAGGAAGATGCTGAGCCCATCTTTGAAGAT c.3600
G V R H A V | R G L M E E D A E P I F E D p.1200
. . . . . . g.416901
GTGATGATGTCATCCCGAAGCCAGTTAGAAGATATGAATGAAGAATTTGAGGACACCATG c.3660
V M M S S R S Q L E D M N E E F E D T M p.1220
. | 33 . . . . . g.419001
GTTATTGATCTG | CCTCCATCAAGAAATCGGCGAGAGAGAGCTGAGCTAAGGCCAGACTTC c.3720
V I D L | P P S R N R R E R A E L R P D F p.1240
. . . | 34 . . g.419153
TTTGACTCTGCAGCTATCATAGAAGATGATTCA | GGATTTGGAATGCCTATGTTCTGA c.3777
F D S A A I I E D D S | G F G M P M F X p.1258
. . . . . . g.419213
agtctgaagaaaatttacaaatctggaactctattatttagagctagaggcctatatact c.*60
. . . . . . g.419273
gtgatagcttgtatggggaaaaacacttttgatgtgatctgatttgttttttaatcaaat c.*120
. . . . . . g.419333
gattaaggtcaatccctttttgcagtgacagaagaggagcatgtaaattacccaagggaa c.*180
. . . . . . g.419393
tgttggtgaatgtcaactcagaaagactgacctgaaaatcatttgtgtcctactattgga c.*240
. . . . . . g.419453
cttatcccaatacagatgtgtgtgtttttctggagggaggaagaaattttaaatttttaa c.*300
. . . . . . g.419513
aacagctgtcaagataaacactgttatacacctgttttatgaaaactcaacattgagtaa c.*360
. . . . . . g.419573
aaaaaaacatatttttaactttattttcctgttgtacaatttaaaaaccgttttaacatt c.*420
. . . . . . g.419633
ttgcctttttatgttttaaaagctaaccatttttattaaacctatgagtaagcagctcat c.*480
. . . . . . g.419693
cctaattgcgaagagtgttttggagttcactggatttggttgacctttgtggaacacaaa c.*540
. . . . . . g.419753
taatgaaggagcagaacattgacaagctaagatgaaattctgacatagtacatctctgcc c.*600
. . . . . . g.419813
aaaaaccacacaccctctgtggatatggatatgaattcccagattttatatactcttgaa c.*660
. . . . . . g.419873
taaaaggtttatttttatttataagtgggcataaaataagaaatgtccatgcagccattt c.*720
. . . . . . g.419933
ttccaacagatgctgtacaccgttcattttatatagactagggagattcaaatacagtgc c.*780
. . . . . . g.419993
attttctattggtatttgttctgtgcatttttagcaacttctaccagcaaataaagtatt c.*840
. . . . . . g.420053
ctcagtaaaacgaaaatgattctcaagttatcagtttgctgtttttaccacttatttcat c.*900
. . . . . . g.420113
gccctgccaaattcaagttacacagacttccattttcttaagataatcaatcatgaagaa c.*960
. . . . . . g.420173
atcctttatcaatcattcaaaagtaattttaagtgtaacataactgtgtttacttcccat c.*1020
. . . . . . g.420233
gcacttaatacccttatgcgctaattttgtgaattaagtttactgattatagaagtatgt c.*1080
. g.420250
gctgcatagaagtctgt c.*1097
(downstream sequence)
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