(used for variant description)
(last modified November 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014909.4 in the VASH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering VASH1 transcript NM_014909.4.
(upstream sequence)
. . . g.5030
gcccctgcgcgccgcccgagccggtcccgc c.-901
. . . . . . g.5090
tgagccgcgggccccgtgccctgcgatggctcggctggtgcagcgcggcgccaggtgcca c.-841
. . . . . . g.5150
gccgtcctcccgctgagacgcgcccgagtggggacccgctgggcctcggggctcgcagcc c.-781
. . . . . . g.5210
ttcgcctccccgccgcgcccgctccctttctggggactccgccgctgtttctggggacga c.-721
. . . . . . g.5270
ggggacaggggacccagacaaagcccactttgtgcagggagttggccgcaggcggggaat c.-661
. . . . . . g.5330
gtgcgcgtcggcgcgcgccccctccccgctcccggccagctgcgagtcttggctcccgga c.-601
. . . . . . g.5390
cttgtctcgtcgcgtcggagaaatcgccccccagcgccgctctcccgcccgggggtcttg c.-541
. . . . . . g.5450
gttccgagctcgcgcggccgggagtcgcctcggtcttccttggggcgcgcgcagatgtga c.-481
. . . . . . g.5510
gcgtgcgagagttgtgtaggggattttgttccctccgaaactgagacccagggcgcccag c.-421
. . . . . . g.5570
tgggcacccgtgccttgactctgtcctttctgcagccgctggtccgagctgtctggcctc c.-361
. . . . . . g.5630
agtttccctccgacttttctccgctctgccagccctcactgctgcccgtcattgttctcg c.-301
. . . . . . g.5690
cagttagatgggggtgctttgtgacggctgccaagttggggtgtgttctctttattccgt c.-241
. . . . . . g.5750
ttttcaaacagaacaaggcctccaaggctgaccccagacaacccaccccctcggacccta c.-181
. . . . . . g.5810
attcaccttattgcactgattttttttatcaagtcgtattttattgtacaggagccacgc c.-121
. . . . . . g.5870
cctgatttcttaaaggcgccttgcactctggccatgtgttatctctgcagccggtgtgtg c.-61
. . . . . . g.5930
ggaggcctcttgtgagccagttgttttcccgcctccaccacccccctcgaagatttaggg c.-1
. . . . . . g.5990
ATGCCAGGGGGGAAGAAGGTGGCTGGGGGTGGCAGCAGCGGTGCCACTCCAACGTCCGCT c.60
M P G G K K V A G G G S S G A T P T S A p.20
. . . . . . g.6050
GCGGCCACCGCCCCCTCTGGGGTCAGGCGTTTGGAGACCAGCGAAGGAACCTCAGCCCAG c.120
A A T A P S G V R R L E T S E G T S A Q p.40
. . . . . . g.6110
AGAGATGAGGAGCCAGAAGAGGAAGGGGAAGAGGACCTGCGAGACGGAGGCGTCCCCTTC c.180
R D E E P E E E G E E D L R D G G V P F p.60
. . . . . . g.6170
TTTGTCAACCGGGGTGGGCTACCTGTGGATGAGGCCACCTGGGAAAGGATGTGGAAACAC c.240
F V N R G G L P V D E A T W E R M W K H p.80
. . . . . . g.6230
GTGGCCAAGATCCACCCCGATGGAGAGAAGGTGGCGCAACGGATCCGTGGGGCCACAGAC c.300
V A K I H P D G E K V A Q R I R G A T D p.100
| 02 . . . . . g.13122
CTGCCCAAG | ATCCCCATACCGAGTGTGCCTACGTTCCAGCCGTCTACACCTGTCCCTGAG c.360
L P K | I P I P S V P T F Q P S T P V P E p.120
. . . | 03 . . g.14320
CGCCTGGAAGCTGTGCAGCGCTACATCAGAGAGCTGCA | GTACAATCACACAGGGACACAG c.420
R L E A V Q R Y I R E L Q | Y N H T G T Q p.140
. . . | 04 . . . g.16270
TTCTTTGAAATTAAGAAGAGCAGACCTCTGACAGG | GCTGATGGACCTGGCCAAGGAAATG c.480
F F E I K K S R P L T G | L M D L A K E M p.160
. . . . . | 05 . g.19010
ACCAAAGAGGCCCTGCCAATCAAATGCCTGGAAGCCGTGATCCTGGGAAT | TTACCTCACC c.540
T K E A L P I K C L E A V I L G I | Y L T p.180
. . . . . . g.19070
AACAGCATGCCCACCCTGGAGCGCTTCCCCATCAGCTTCAAGACCTACTTCTCAGGGAAC c.600
N S M P T L E R F P I S F K T Y F S G N p.200
. . . . . . g.19130
TACTTCCGCCACATCGTGCTGGGGGTGAACTTCGCGGGCCGCTACGGTGCGCTGGGCATG c.660
Y F R H I V L G V N F A G R Y G A L G M p.220
. . . . . . g.19190
AGTCGGCGCGAGGACCTGATGTACAAGCCGCCCGCCTTCCGCACGCTCAGCGAGCTCGTG c.720
S R R E D L M Y K P P A F R T L S E L V p.240
. . . . . . g.19250
CTGGACTTCGAGGCCGCCTACGGCCGCTGCTGGCACGTGCTCAAGAAGGTGAAGCTGGGC c.780
L D F E A A Y G R C W H V L K K V K L G p.260
. . . . . . g.19310
CAGAGCGTGTCACACGACCCGCACAGCGTGGAGCAGATCGAGTGGAAGCACTCGGTGCTG c.840
Q S V S H D P H S V E Q I E W K H S V L p.280
. . . . . . g.19370
GACGTGGAGCGCCTGGGCCGCGATGACTTCCGCAAGGAGCTGGAGCGCCACGCCCGCGAC c.900
D V E R L G R D D F R K E L E R H A R D p.300
. | 06 . . . . . g.21115
ATGCGGCTCAAG | ATTGGCAAAGGGACGGGCCCTCCCTCTCCCACCAAGGACCGGAAGAAG c.960
M R L K | I G K G T G P P S P T K D R K K p.320
. . . . . . g.21175
GATGTTTCTTCCCCGCAGCGGGCCCAGTCCAGCCCCCACCGCAGGAACAGCCGCAGTGAA c.1020
D V S S P Q R A Q S S P H R R N S R S E p.340
| 07 . . . . . . g.22109
AGACG | GCCCTCGGGTGACAAGAAGACTTCCGAGCCCAAAGCCATGCCAGACCTTAACGGG c.1080
R R | P S G D K K T S E P K A M P D L N G p.360
. g.22127
TACCAGATCCGGGTCTGA c.1098
Y Q I R V X p.365
. . . . . . g.22187
ggcggatgccagcaccccaggccccacccactcttgggggccaggatccacctgctggaa c.*60
. . . . . . g.22247
ccagccttatgcatggggaaggcggggctggtgacaaggcagggcaagaggctgcaggaa c.*120
. . . . . . g.22307
gagtgtgttccagctcagccccccaagctgctctcgctcccactgagccaagccccctaa c.*180
. . . . . . g.22367
ctttgggcctagaggccgttagtattttatttggagtttttaactctacaactgaagttt c.*240
. . . . . . g.22427
aaggtatttggggaaaacttagtccaaatggatctgctgatggtgggaaggccagtgctt c.*300
. . . . . . g.22487
aacaaatccatgtgtcatggggccaggtgagggaaactgctggttctgctggtgcctctg c.*360
. . . . . . g.22547
cccctggcttctctctgggagttgggtgcatcttatcagtgggaaatctcccagccttac c.*420
. . . . . . g.22607
caggcctgtgatggggggtgggggtggggtggagatgtttctccagttctgcctgccctg c.*480
. . . . . . g.22667
gcagaatcttgacccagggaaagggaagcagggtaggagtccttctgagaaaggtctgtg c.*540
. . . . . . g.22727
tagcccattaaccaggagcttggcacaggccacatctgccccaagagcatgagctcgtgg c.*600
. . . . . . g.22787
ctcaggagagccttcaggcccttgaggcccccatgggcagtgctgtgtgggcagaggagg c.*660
. . . . . . g.22847
ggtgatatgagagcgagcccagggaaggacctctgggcaaaaagttcccaggccctaact c.*720
. . . . . . g.22907
gcgtctacttgctcagtcccagctctgcctgttgctctagcccacaggctccctgcggag c.*780
. . . . . . g.22967
ggtctgggcttggcggaggacccagaatggcactgaggccagcatggctgtgggagttga c.*840
. . . . . . g.23027
gcaaaccctgggtgccagtccaggagctgtggctggacatggggtgatggggcgggatgc c.*900
. . . . . . g.23087
ttgggcctgggtctctccgccagcagtgccaggagcccttgctggggaaatcaagaccag c.*960
. . . . . . g.23147
actaggatgcttctgccccaggcctgccttccattctttaacagcccatcttggcttggg c.*1020
. . . . . . g.23207
gttgcaatgatggctgggccagtcacttgtggcagggcatcagggccctggcagggaaga c.*1080
. . . . . . g.23267
acctaggcacctggggttgtccccagcctgcccgtcagcatgagatacccagtgggaaag c.*1140
. . . . . . g.23327
tgagaggatgcggagaggttggcagagccaggggtaggttctggaggctcaagcaacaag c.*1200
. . . . . . g.23387
gaggtgcaggtaaagggtgcagtgcagccactgagggacagctgggaactgggggatgca c.*1260
. . . . . . g.23447
agtgagaaagggatgtgggggagagttcaggatcaggctgcttgaggagtaatgggttac c.*1320
. . . . . . g.23507
ctacagcagagacgagatggctgtttgtcaggaggcggtagaaaggtagaaaggattcag c.*1380
. . . . . . g.23567
attgtggaagggtaaacggatgagatgaccattaaggttttgttttactgagaggctgta c.*1440
. . . . . . g.23627
agtctgccagggacagctgtcagtaaggctgcagaagggctggggggctacacaaggaag c.*1500
. . . . . . g.23687
agcagaactagggttgtaagctcaaatgacgagcaaacggtgagaaggaggcctgaaggg c.*1560
. . . . . . g.23747
ctgtgtggggactatggctacctgaagagggcacaccctgttaaaggggccacagctgct c.*1620
. . . . . . g.23807
cagctgttcttacagtgccggccctgtgttgccagattgtctgctttgtcagaggccaga c.*1680
. . . . . . g.23867
attctgactttttatgtgaaataggatttttaaatgctggtgatcacttaaaaaaaactt c.*1740
. . . . . . g.23927
aaaaacccaatactggcaaaagaggatgccagtttgcaatccctgaagtagagagagctc c.*1800
. . . . . . g.23987
gtgctggggagaagtccaccaagatgctttgaggcgggctgtagcaaagtcctgtttctc c.*1860
. . . . . . g.24047
agagctgggctgggctggggtaggatccttgcagctgaggaggaggaaaagccactgagt c.*1920
. . . . . . g.24107
ctcctcccagagcgggacaaaccagaggccctttgcagttgctgggtcaccagcgggggt c.*1980
. . . . . . g.24167
ggcgcatggagtacagacagtgtagctcttggcctgccagggagacggatggtgcctttg c.*2040
. . . . . . g.24227
aagcaaagaggaagggaaggcagaaccagggatgcctttgctgatgagagtgcctgtcag c.*2100
. . . . . . g.24287
ggaaggcgccacaggctggcagctcttcaaaccagcagcgcttgacccagagccagatcc c.*2160
. . . . . . g.24347
agcatggcctggccagaggcaccctgggaggccagctggtcagtcccttgcctccccaag c.*2220
. . . . . . g.24407
ttccccctggggtcaatgagccctgggaggatgcctaacctaactccagccagactaata c.*2280
. . . . . . g.24467
ggggcatggtgacccttgactcaccatcccatcccagctttcagggagtgggggtagtgt c.*2340
. . . . . . g.24527
ggtctccatgttcctactatgcctaagaagagatggctcaccttgggaggtgccaggctg c.*2400
. . . . . . g.24587
aaactaggtcctttccgggtctggatgctgccgctcaggagcaggggcgtggcctcagct c.*2460
. . . . . . g.24647
gcctctgggagcttcccgggaatgacagggtttgaggggagtagatatgagagggagccg c.*2520
. . . . . . g.24707
ctcctggttctggagtcttaggaggttccaacttgcaggatcctttcccagagccctcca c.*2580
. . . . . . g.24767
tggagaaaacagcaaaatgaagcccttacctgcttgctgtctgcaagggagggagccgag c.*2640
. . . . . . g.24827
ccccagctgataatcccccagcactcacccttcctgagctgagacttcggggctgtggag c.*2700
. . . . . . g.24887
accagcacaggacatagtggtgctttttaaatttatttttaactgtttctcatatgtagc c.*2760
. . . . . . g.24947
aacccctcctcccctcctgggcatgtttacacaggctctgctctgggggctggcctggct c.*2820
. . . . . . g.25007
gtgaggtttctggggaggcagagaggcagggactttggggccttagtcaccatccatggt c.*2880
. . . . . . g.25067
atcacctcatctcacttcctgtgagggacagggcctggctgatgtgatcccagctccccc c.*2940
. . . . . . g.25127
cagttcaggactgtctttcagctcctttgcccctggaggtgggggctgctggctgaggag c.*3000
. . . . . . g.25187
gggtcaaggtgagttcaagaaagctacctgtggaaaatggaccaggttgggggggtgatt c.*3060
. . . . . . g.25247
gcaaagtctccccaaagcctggctcctcatgctcagtgccaggggcagaacactggggag c.*3120
. . . . . . g.25307
ccaggtatagagagccttcctgtcataactgccagtcctcttcctccaaggcctctgcat c.*3180
. . . . . . g.25367
attctcatgttcccctcacccatcatgccagccacccctatccctcttctagcagggcca c.*3240
. . . . . . g.25427
agatggggacagcagcagccctctggccttgggatgtgatgataaagcaagcctagggcc c.*3300
. . . . . . g.25487
agggtttggggagcagagagagccaagaagttgaccacgtgtgatttccagcccttccca c.*3360
. . . . . . g.25547
ctgggacttgacttcccaggtcaaggagtccgtctcattctggctggtcgagtgaccaga c.*3420
. . . . . . g.25607
ggcctgtgtgaatgtgtgcacctgcttttcctgcctggaatgttttctggctcagctgca c.*3480
. . . . . . g.25667
gcaacatctgtgagcccagtgtctgccctgtgtccctgggctcgctccaagtgcaggaac c.*3540
. . . . . . g.25727
atacatgcagggcccaacatgatgatggtgtgaagggcaggaaacagtcctctgaaggag c.*3600
. . . . . . g.25787
tggggaggtgggcagtctgcccccgccaggtaccatcgcctcctgccagcttccttagac c.*3660
. . . . . . g.25847
caggcagggctgccatggtgctagctgcaagtccatcagtattgaccgtctcgctccatc c.*3720
. . . . . . g.25907
ttggtcctccggagtcccaagtttccttttcatcaaatctgacaagagagaagaaacatg c.*3780
. . . . . . g.25967
ggtgtgcttggcccacagggcctggtggtgatggacctccccgctccctcaagctctgga c.*3840
. . . . . . g.26027
tggctgcagtgttgtactagactttgttcaggctgttctcatctcagtattgccccttcc c.*3900
. . . . . . g.26087
tttcactttcacacttcatctcattcctgttgtcactttccccgaaacgaataaagtctc c.*3960
. . . . g.26129
cccagctcctgctgtgtaggctgggcagaaaccacaacacgt c.*4002
(downstream sequence)
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