(used for variant description)
(last modified October 26, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_014738.4 in the KIAA0195 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering KIAA0195 transcript NM_014738.4.
(upstream sequence)
. . . g.5035
ctgaactttagctctctggccggcgcctctgttgc c.-241
. . . . . . g.5095
ccggaagggaggcaagcccccttagagttgccagtaacggacatggctgcggcccccgga c.-181
. . . . . . g.5155
ggaggggacgtgaagtgaggagggggttgggaggggagaggacgcgggcgaggaagacca c.-121
. . | 02 . . . . g.20263
gccccggggccccg | atgttgtgactgtgacagactcactggggtttgtacatgctgggga c.-61
. . . . . . g.20323
ggagccttcctttcaggggtgaccacattcatctgggcatgcctgcagtactcttggccc c.-1
. . | 03 . . . . g.33881
ATGGACCTGAAGGAGAAGCACCTG | GGCGAGCCTCCCTCAGCCCTGGGCCTGTCCACGCGG c.60
M D L K E K H L | G E P P S A L G L S T R p.20
. . . . . . g.33941
AAGGCCCTCAGCGTCCTGAAGGAGCAGCTGGAGGCAGTGCTGGAAGGACATCTCAGGGAG c.120
K A L S V L K E Q L E A V L E G H L R E p.40
. . | 04 . . . . g.34324
CGGAAGAAGTGTCTGACGTGGAAG | GAGGTGTGGAGAAGCAGCTTCCTCCACCACAGTAAC c.180
R K K C L T W K | E V W R S S F L H H S N p.60
. . . . . . g.34384
CGCTGCTCCTGCTTCCACTGGCCGGGGGCCTCACTCATGCTACTGGCCGTGCTGCTGCTG c.240
R C S C F H W P G A S L M L L A V L L L p.80
. . . | 05 . . . g.34735
CTGGGCTGCTGCGGGGGACAGCCAGCCGGGAG | CCGTGGGGTGGGGCTGGTGAATGCCTCG c.300
L G C C G G Q P A G S | R G V G L V N A S p.100
. . . . . . g.34795
GCCTTGTTCCTGTTACTGCTTCTCAACCTTGTGCTCATCGGGCGGCAAGACCGGCTGAAG c.360
A L F L L L L L N L V L I G R Q D R L K p.120
. . . . | 06 . g.36360
CGTCGGGAGGTAGAGCGGAGGCTGCGAGGGATCATTGACCAAATCCAAG | ATGCCCTCAGG c.420
R R E V E R R L R G I I D Q I Q D | A L R p.140
. . . . . . g.36420
GATGGCAGGGAGATCCAGTGGCCCAGTGCCATGTATCCAGACCTCCACATGCCTTTTGCG c.480
D G R E I Q W P S A M Y P D L H M P F A p.160
. . . . . . g.36480
CCATCCTGGTCCTTGCACTGGGCCTACAGAGACGGACACCTGGTCAACCTGCCAGTCAGC c.540
P S W S L H W A Y R D G H L V N L P V S p.180
. . . . . . g.36540
CTGCTGGTTGAAGGAGACATCATAGCTTTGAGGCCTGGCCAGGAATCGTTTGCTTCTCTG c.600
L L V E G D I I A L R P G Q E S F A S L p.200
. | 07 . . . . . g.37224
AGGGGGATCAAG | GATGACGAGCACATCGTCCTGGAGCCGGGAGACCTCTTCCCCCCCTTC c.660
R G I K | D D E H I V L E P G D L F P P F p.220
. . . . . . g.37284
TCCCCTCCACCCTCACCCCGGGGAGAAGTGGAGAGAGGGCCACAGAGCCCCCAGCAGCAC c.720
S P P P S P R G E V E R G P Q S P Q Q H p.240
. . . . | 08 . . g.37699
CGGCTTTTCCGTGTCCTTGAGACCCCTGTGATTGACAACATCAG | ATGGTGCCTGGACATG c.780
R L F R V L E T P V I D N I R | W C L D M p.260
. . . . . . g.37759
GCCCTGTCCCGACCAGTCACTGCCCTGGACAATGAGCGGTTCACAGTGCAGTCGGTGATG c.840
A L S R P V T A L D N E R F T V Q S V M p.280
. . | 09. . . . g.38026
CTACACTATGCTGTGCCCGTGGTCCTG | GCCGGCTTCCTCATCACCAATGCCCTGCGCTTC c.900
L H Y A V P V V L | A G F L I T N A L R F p.300
. . . . . | 10 . g.38657
ATCTTCAGTGCCCCGGGGGTCACTTCCTGGCAGTACACCCTCCTCCAGCTCCAG | GTGAAT c.960
I F S A P G V T S W Q Y T L L Q L Q | V N p.320
. . . . . . g.38717
GGCGTCCTGCCCATCCTCCCCCTGCTCTTTCCAGTCCTCTGGGTTCTGGCAACTGCCTGT c.1020
G V L P I L P L L F P V L W V L A T A C p.340
. . . . . | 11 . g.39128
GGAGAGGCCCGTGTCCTGGCCCAGATGAGCAAGGCCTCACCCAGCTCCCTG | CTGGCTAAG c.1080
G E A R V L A Q M S K A S P S S L | L A K p.360
. . . . | 12 . g.39478
TTCTCAGAGGATACTCTCAGCAGCTATACGGAGGCTGTCTCCTCTCAG | GAAATGCTGCGC c.1140
F S E D T L S S Y T E A V S S Q | E M L R p.380
. . . . . . g.39538
TGCATTTGGGGCCACTTCCTGAGGGTGCTCGGGGGGACATCGCCAACGCTGAGCCACAGT c.1200
C I W G H F L R V L G G T S P T L S H S p.400
. . . | 13 . . . g.39747
TCCAGCCTGCTGCACAGCCTGGGCTCTGTCACG | GTCCTGTGCTGTGTGGACAAACAGGGG c.1260
S S L L H S L G S V T | V L C C V D K Q G p.420
. . . . . . g.39807
ATCCTGTCATGGCCAAATCCCAGCCCAGAGACTGTACTGTTCTTCAGCGGGAAGGTGGAG c.1320
I L S W P N P S P E T V L F F S G K V E p.440
. . . . . . g.39867
CCCCCTCACAGCAGCCATGAGGACCTCACCGATGGCCTATCCACCCGCTCCTTCTGCCAT c.1380
P P H S S H E D L T D G L S T R S F C H p.460
| 14 . . . . . . g.40162
CCCGAG | CCCCATGAACGAGACGCCCTCCTGGCTGGCTCCCTGAACAACACCCTGCACCTT c.1440
P E | P H E R D A L L A G S L N N T L H L p.480
. . . . . . g.40222
TCCAATGAGCAGGAGCGTGGCGACTGGCCTGGCGAGGCTCCCAAGCCCCCCGAGCCCTAT c.1500
S N E Q E R G D W P G E A P K P P E P Y p.500
. . . . . . g.40282
TCACACCACAAAGCGCATGGCCGCAGCAAACACCCATCTGGCTCCAACGTGAGCTTCAGC c.1560
S H H K A H G R S K H P S G S N V S F S p.520
. . . | 15 . . . g.40915
AGGGACACCGAGGGTGGTGAAGAAGAGCCCAGCAAG | ACCCAGCCTGGGATGGAGAGCGAC c.1620
R D T E G G E E E P S K | T Q P G M E S D p.540
. . . . . . g.40975
CCCTACGAAGCAGAGGACTTTGTGTGTGACTACCACCTGGAGATGCTGAGCCTGTCCCAG c.1680
P Y E A E D F V C D Y H L E M L S L S Q p.560
. . . . . . g.41035
GACCAGCAGAACCCCTCCTGCATCCAGTTTGATGACTCCAACTGGCAGCTGCACCTCACC c.1740
D Q Q N P S C I Q F D D S N W Q L H L T p.580
. . . . . . g.41095
TCCCTCAAACCCCTGGGCCTCAATGTGCTGCTGAACCTGTGTGATGCCAGCGTCACCGAG c.1800
S L K P L G L N V L L N L C D A S V T E p.600
. . . . . . g.41155
CGCCTGTGCCGATTCTCCGACCACCTGTGCAACATCGCCCTGCAAGAGAGCCACAGCGCC c.1860
R L C R F S D H L C N I A L Q E S H S A p.620
. . . . . | 16 . g.41354
GTGCTGCCCGTCCATGTGCCCTGGGGCCTCTGCGAGCTTGCCCGCCTCATTG | GCTTCACT c.1920
V L P V H V P W G L C E L A R L I G | F T p.640
. . . . . . g.41414
CCTGGGGCCAAGGAGCTTTTCAAGCAGGAGAACCATCTGGCGCTGTACCGCCTCCCCAGT c.1980
P G A K E L F K Q E N H L A L Y R L P S p.660
. . . . . . g.41474
GCCGAGACAATGAAGGAGACATCGCTGGGGCGGCTCTCCTGTGTCACCAAGCGGCGGCCT c.2040
A E T M K E T S L G R L S C V T K R R P p.680
. . . . | 17 . . g.41922
CCCCTCAGCCACATGATCAGCCTCTTCATTAAAGACACCACCACCA | GCACAGAGCAGATG c.2100
P L S H M I S L F I K D T T T S | T E Q M p.700
. . . . . . g.41982
CTGTCCCATGGCACCGCTGATGTGGTCTTAGAGGCCTGCACAGACTTCTGGGACGGAGCT c.2160
L S H G T A D V V L E A C T D F W D G A p.720
. . | 18 . . . g.42147
GACATCTACCCTCTCTCGGGATCTGACAG | AAAGAAAGTGCTGGACTTCTACCAGCGAGCC c.2220
D I Y P L S G S D R | K K V L D F Y Q R A p.740
. . . . . . g.42207
TGCCTGTCTGGGTATTGCTCTGCCTTCGCCTACAAGCCCATGAACTGCGCCCTGTCCTCT c.2280
C L S G Y C S A F A Y K P M N C A L S S p.760
. . . . . . g.42267
CAGCTCAATGGCAAGTGCATCGAGCTGGTACAGGTGCCCGGCCAAAGCAGCATCTTCACC c.2340
Q L N G K C I E L V Q V P G Q S S I F T p.780
. . . . . . g.42327
ATGTGCGAGCTGCCCAGCACCATCCCCATCAAGCAGAACGCCCGCCGCAGCAGCTGGAGC c.2400
M C E L P S T I P I K Q N A R R S S W S p.800
| 19. . . . . . g.43097
TCTGACG | AAGGGATCGGGGAGGTGCTGGAGAAGGAAGACTGCATGCAGGCCCTGAGCGGC c.2460
S D E | G I G E V L E K E D C M Q A L S G p.820
. . . . . . g.43157
CAGATCTTCATGGGCATGGTGTCCTCCCAGTACCAGGCCCGGCTGGACATCGTGCGCCTC c.2520
Q I F M G M V S S Q Y Q A R L D I V R L p.840
. . . . . . g.43217
ATTGATGGGCTTGTCAACGCCTGCATCCGCTTTGTCTACTTCTCTTTGGAGGATGAGCTC c.2580
I D G L V N A C I R F V Y F S L E D E L p.860
| 20 . . . . . g.43364
AAAAGCAAG | GTGTTTGCAGAAAAAATGGGCCTGGAGACAGGCTGGAACTGCCACATCTCC c.2640
K S K | V F A E K M G L E T G W N C H I S p.880
. . . . . . g.43424
CTCACACCCAATGGTGACATGCCTGGCTCCGAGATCCCCCCCTCCAGCCCCAGCCACGCA c.2700
L T P N G D M P G S E I P P S S P S H A p.900
. . | 21 . . . g.43733
GGCTCCCTGCATGATGACCTGAATCAGG | TGTCCCGAGATGATGCAGAAGGGCTCCTCCTC c.2760
G S L H D D L N Q V | S R D D A E G L L L p.920
. . . . . . g.43793
ATGGAGGAGGAGGGCCACTCGGACCTCATCAGCTTCCAGCCTACGGACAGCGACATCCCC c.2820
M E E E G H S D L I S F Q P T D S D I P p.940
. . | 22 . . . . g.43997
AGCTTCCTGGAGGACTCCAACCGG | GCCAAGCTGCCCCGGGGTATCCACCAAGTGCGGCCC c.2880
S F L E D S N R | A K L P R G I H Q V R P p.960
. . . . . . g.44057
CACCTGCAGAACATTGACAACGTGCCCCTGCTAGTGCCCCTTTTCACCGACTGCACCCCA c.2940
H L Q N I D N V P L L V P L F T D C T P p.980
| 23 . . . . . . g.44439
GAGA | CCATGTGTGAGATGATAAAGATCATGCAAGAGTACGGGGAGGTGACCTGCTGCCTG c.3000
E T | M C E M I K I M Q E Y G E V T C C L p.1000
. . . . . | 24 . g.44706
GGCAGCTCTGCCAACCTGCGGAACAGCTGCCTCTTCCTCCAGAGCGACATCAG | CATTGCC c.3060
G S S A N L R N S C L F L Q S D I S | I A p.1020
. . . . . . g.44766
CTGGATCCCCTGTACCCATCCCGTTGCTCCTGGGAGACCTTTGGCTACGCCACCAGCATC c.3120
L D P L Y P S R C S W E T F G Y A T S I p.1040
. . . . . . g.44826
AGCATGGCCCAGGCCTCGGATGGCCTTTCTCCCCTGCAGCTGTCAGGGCAGCTCAACAGC c.3180
S M A Q A S D G L S P L Q L S G Q L N S p.1060
. . . . . . g.44886
CTGCCCTGTTCCCTGACCTTTCGCCAGGAGGAGACCATCAGCATCATCCGGCTTATCGAA c.3240
L P C S L T F R Q E E T I S I I R L I E p.1080
| 25 . . . . . . g.45204
CAG | GCTCGGCATGCCACCTATGGCATCCGTAAGTGCTTCCTCTTCCTGCTGCAGTGCCAG c.3300
Q | A R H A T Y G I R K C F L F L L Q C Q p.1100
. . | 26 . . . . g.45569
CTGACTCTTGTGGTCATCCAG | TTCCTTTCTTGCCTGGTCCAGCTGCCGCCACTCCTGAGT c.3360
L T L V V I Q | F L S C L V Q L P P L L S p.1120
. . . . | 27. . g.46211
ACCACCGACATCCTGTGGCTGTCCTGCTTTTGCTACCCTCTGCTCAG | CATCTCTCTGCTG c.3420
T T D I L W L S C F C Y P L L S | I S L L p.1140
. . . . . . g.46271
GGGAAGCCCCCCCATAGCTCCATCATGTCTATGGCAACGGGGAAAAACCTCCAGTCCATT c.3480
G K P P H S S I M S M A T G K N L Q S I p.1160
| 28 . . . . . g.46643
CCCAAGAAG | ACCCAGCACTACTTCCTGCTCTGCTTCCTGCTCAAGTTCAGCCTCACCATC c.3540
P K K | T Q H Y F L L C F L L K F S L T I p.1180
. . . . . . g.46703
AGCTCCTGCCTCATCTGCTTTGGCTTCACACTGCAGAGCTTCTGTGACAGCTCCCGGGAC c.3600
S S C L I C F G F T L Q S F C D S S R D p.1200
. . . | 29 . . g.46883
CGCAACCTCACCAACTGCTCCTCCGTCATGCTGCCCAG | CAACGACGACAGGGCTCCAGCC c.3660
R N L T N C S S V M L P S | N D D R A P A p.1220
. . . . . . g.46943
TGGTTTGAGGACTTTGCCAATGGACTGCTGTCGGCTCAGAAGCTCACGGCCGCCCTGATT c.3720
W F E D F A N G L L S A Q K L T A A L I p.1240
. | 30 . . . . . g.47093
GTCCTGCACACTG | TCTTCATTTCCATCACCCATGTGCATCGCACCAAGCCCCTGTGGAGA c.3780
V L H T V | F I S I T H V H R T K P L W R p.1260
. . . . | 31. . g.47342
AAGAGCCCCTTGACCAACCTCTGGTGGGCCGTGACAGTGCCTGTGGT | GCTGCTGGGTCAG c.3840
K S P L T N L W W A V T V P V V | L L G Q p.1280
. . . . . . g.47402
GTGGTCCAGACGGCTGTGGACCTGCAGCTGTGGACACACAGGGACAGCCACGTCCACTTT c.3900
V V Q T A V D L Q L W T H R D S H V H F p.1300
. . . . . . g.47462
GGCCTGGAGGACGTGCCCCTGCTGACATGGCTCCTGGGCTGCCTGTCCCTGGTCCTTGTG c.3960
G L E D V P L L T W L L G C L S L V L V p.1320
. . . | 32 . . g.47701
GTGGTGACCAATGAGATCGTGAAGCTACATGAGATTCG | GGTCCGAGTCCGCTACCAGAAG c.4020
V V T N E I V K L H E I R | V R V R Y Q K p.1340
. . . . . g.47752
CGACAGAAGCTGCAGTTTGAAACTAAGCTGGGCATGAACTCTCCCTTCTGA c.4071
R Q K L Q F E T K L G M N S P F X p.1356
. . . . . . g.47812
gccactggctgtggtggctgtagttgcccccgtccctggggctaaagccagacccatttc c.*60
. . . . . . g.47872
tgaacaggggagtttgtatcatgaatgtttccaggtttgctcctgcacccgtggcactgg c.*120
. . . . . . g.47932
aaacccagctccccgtgtcagaccccgctgtcttcctgagccctggggctcactgtggag c.*180
. . . . . . g.47992
gagctgacggcctgggcccttggccagtcctggctcttccctgggcctcaccagggacac c.*240
. . . . . . g.48052
tcttgaatgtatggcctcaggcgctccctagaggggccctaaaccccctcacctgtgagc c.*300
. . . . . . g.48112
taccccctttagggatcccttgcccccttggagatcccttgccccccagtgcctctgctc c.*360
. . . . . . g.48172
gtgggtccctggacacggccttgaagccaaccttctttggaggagcaacagcagcagcct c.*420
. . . . . . g.48232
tggccgacgcgtccaactcccaaggctgccgtggagggcaggggggtggtgcttgcctgg c.*480
. . . . . . g.48292
atgtggccccgagtgcctcccctccctccctctgtgggggagtctcccgcctgaacctga c.*540
. . . . . . g.48352
agatggagcagggcccccgcttcgccctggagcctcttcctgtgcctggctcaagctggc c.*600
. . . . . . g.48412
tgcctgtcagtcttggggaatctggcccaggtctcctcagcctctgccccagttctggga c.*660
. . . . . . g.48472
gaagtttctactggtgtatattttttactggaaatgagccttttaggaatgaatgtagac c.*720
. . . . . . g.48532
tggtttgtattaaaatgtgtcaattgctaagaaatacctgtggctggtctgtaaggccac c.*780
. . . . . . g.48592
tccagggtctgcccacccccggcggtggctggcaaagggaggcctaaaccttcctccatc c.*840
. . . . . . g.48652
tacgcgggtgggtccctcaggtctggctcaggcgagacccctagggtcaggggtccccat c.*900
. . . . . . g.48712
gtcacagaggcaaacacacagcccagtcacgtggaatggtgttttcattggtgttagttg c.*960
. . . . . . g.48772
ggggaagaggttaatggttacagagccagggcctgggccaatggggtcaggctctccctg c.*1020
. . . . . . g.48832
ccctcaggtgggcagtcggggctcctgctgtggtccgaagcccctcccccattgtgtcct c.*1080
. . . g.48870
ctcaggcagttgatagaataaattccatttaaaatata c.*1118
(downstream sequence)
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