(used for variant description)
(last modified January 23, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_144992.4 in the VWA3B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_054753.1, covering VWA3B transcript NM_144992.4.
(upstream sequence)
. . g.5024
ggagacgccgtcgtcaacagaccg c.-241
. . . . . . g.5084
cgctcggaaccagaggcgcgggtcacagagacctagaacagctggaatccttcgcccccg c.-181
. . . . . . g.5144
gcgcgcagccttcgcccgccggaatcgctgccttatccaccagcgggatgcttacctcgc c.-121
. . . . . . g.5204
ccgccctctcgggtcaggcgggcccgggaggatgggagggtggctgctgagcgggagccg c.-61
. . . | 02. . . g.10961
ccacgtcttccacccgacatattgccta | gagtttgctgtgacttagatcttgattcagag c.-1
. . . . . . g.11021
ATGGAGAAATCAGGCCCATCTTCTACCATCTCTGAGCAGCAGCTGCAGAGGCAAGAGGGA c.60
M E K S G P S S T I S E Q Q L Q R Q E G p.20
. . . . . . g.11081
TGGATTAACACCAAAACAGACTTGGCTGAGCAGAGTCTCATTTCATCTGAGAAATGGCTT c.120
W I N T K T D L A E Q S L I S S E K W L p.40
. . . . . . g.11141
CAACTGCATGGGCTTAAGAGCAACAAATTGACCTTGAAACAGATTTTGTCACAGATCGGA c.180
Q L H G L K S N K L T L K Q I L S Q I G p.60
. | 03 . . . . . g.33564
TTCCCACATTGTGAAG | ATTATGTGGCGTCTCTGGGGAGACCTGTGGCTTCTCGGTATGCT c.240
F P H C E D | Y V A S L G R P V A S R Y A p.80
. . . . . | 04 . g.37390
GATGGTCTGTTTCCACAGCTCTACAGAGCAGAAGATGGCAGAGTATACAAT | CTGACAGCT c.300
D G L F P Q L Y R A E D G R V Y N | L T A p.100
. . . . . . g.37450
AAATCAGAACTGATTTATCAGTTTGTGGAACATTTAACACAAGCTGTGGAGAGCTACAAG c.360
K S E L I Y Q F V E H L T Q A V E S Y K p.120
. . . . . . g.37510
CAGCGAATGGACTGGCTCACCAGCAAGAGCCGGCAGATTTTTGGTGTCATCTTGGAACAG c.420
Q R M D W L T S K S R Q I F G V I L E Q p.140
. . . . . . g.37570
TGCGTCACCATAGTGCTGGATTTTGGCGGCATTCTGGAGGGGGAGCTTGATCTGTGCCGA c.480
C V T I V L D F G G I L E G E L D L C R p.160
. . . . . . g.37630
GAGGCTCTAACAATGGTTCTCCAGGAGCAGGTGGCTCACATAACCGAGTTCAATATCATA c.540
E A L T M V L Q E Q V A H I T E F N I I p.180
| 05 . . . . . . g.39225
CG | GGTTTCTCAAGAGCCTGTGAAGTGGCAGGAAAATGCTACTCCTGTGACCGAACAGTCC c.600
R | V S Q E P V K W Q E N A T P V T E Q S p.200
. . . . . . g.39285
ATAGCTACTGCCATCAGTTGGGTTGAGAAACTGACGGTTGAGCTGACTGTGAGCGAGGCT c.660
I A T A I S W V E K L T V E L T V S E A p.220
. . . . | 06 . . g.46125
GGCCGCCTGGATGCTCTGCTGGAAGCCGGGAGAGACAAGACT | ATTGAATCCATTTACTAC c.720
G R L D A L L E A G R D K T | I E S I Y Y p.240
. . . . . . g.46185
TTTGTGGTGGGGGATGTTCCTGAAGAATCCAAGGAGCTTCTCCTCCAGAGGGCCTTGGAG c.780
F V V G D V P E E S K E L L L Q R A L E p.260
. . . . . . g.46245
ATCCCGTGTCCAGTCTACACAGTGTCCTTCAACGCCAGAGGAGAAGGCACTATAGCTTTT c.840
I P C P V Y T V S F N A R G E G T I A F p.280
. . . | 07 . . . g.51720
CTAAAGGATCTGAGTGCCAAGACCCACAGCAG | ATTCCACGCATTTGCCGAGAGAACAGAG c.900
L K D L S A K T H S R | F H A F A E R T E p.300
. . . . . . g.51780
TGTGTAGAATTTCCTGCATTCTCCACAAAGGATGGTGACAATGTGATGACTTGGAATTCA c.960
C V E F P A F S T K D G D N V M T W N S p.320
. . | 08 . . . g.80751
AGGAAACTGAAAGGAAAACTCCCTCCAG | GAGCTGGAGTCAGAGAGGACGTGTTTCTCGTT c.1020
R K L K G K L P P G | A G V R E D V F L V p.340
. . . . . . g.80811
TGGCAAGAGATGGAGGAAGCCTGCAGCACGCTGGCCCAGATCCAGAGGCTGGTGGCCGAG c.1080
W Q E M E E A C S T L A Q I Q R L V A E p.360
. . . | 09 . . . g.98910
CCTCCCAAGCCCGACGTGGCCACTGTGGACTGCG | AGTCAGAAACAACCTCTGTTGAGATT c.1140
P P K P D V A T V D C E | S E T T S V E I p.380
. . . . . . g.98970
GCATCGAATCCAGAAGACACCTGGGACTCTAAGACATGGCTGCAGAAATATGGCTTGAAG c.1200
A S N P E D T W D S K T W L Q K Y G L K p.400
. . . . . . g.99030
GCCCAGAAGCTATCCTTGTATGATGTGCTTGCCGACTGCTCTTTCCGCCACGCTGATGGG c.1260
A Q K L S L Y D V L A D C S F R H A D G p.420
. . . . . | 10 . g.105852
GTTGTGGATATAAAAGCCAAACCGGAGAATGAGTCCGTGCAGACCAGTGCG | GAGACGAAC c.1320
V V D I K A K P E N E S V Q T S A | E T N p.440
. . . . . . g.105912
AAGAAGACAGTCCATGCAAAATATTGCAGCAGGTTTGTCCATGCTCCCTGGAAGGATGGG c.1380
K K T V H A K Y C S R F V H A P W K D G p.460
. . . . . . g.105972
AGCTTGGTCCACGTCAACATTACCAAAGAGAAGTGCAAGTGGTACAGTGAGAGAATCCAC c.1440
S L V H V N I T K E K C K W Y S E R I H p.480
. . | 11 . . . . g.110800
ACAGCCCTGGCCCGGATCCGAAGGAG | GATTAAATGGCTACAGGATGGGAGTCAAAGCCTC c.1500
T A L A R I R R R | I K W L Q D G S Q S L p.500
. . . . . . g.110860
TTTGGAAGATTGCATAATGATTGCATCTACATTCTCATTGACACGTCTCACTCAATGAAG c.1560
F G R L H N D C I Y I L I D T S H S M K p.520
. . . . | 12 . . g.112244
AGCAAACTGGACTTGGTGAAGGACAAGATCATTCAGTTCATACAG | GAACAGCTGAAATAT c.1620
S K L D L V K D K I I Q F I Q | E Q L K Y p.540
. . . . . . g.112304
AAAAGTAAGTTTAACTTTGTGAAGTTTGATGGTCAAGCAGTTGCTTGGCGGGAACAACTT c.1680
K S K F N F V K F D G Q A V A W R E Q L p.560
. . . . . | 13. g.129801
GCTGAAGTCAATGAAGATAATTTGGAACAGGCTCAGTCCTGGATTAGAGACATAAAG | ATT c.1740
A E V N E D N L E Q A Q S W I R D I K | I p.580
. . . . . . g.129861
GGAAGCTCCACAAACACCCTGAGTGCCCTGAAAACTGCTTTTGCTGATAAAGAAACACAG c.1800
G S S T N T L S A L K T A F A D K E T Q p.600
. . . | 14 . . . g.135738
GCAATCTACCTTCTGACCGATGGGAGACCTGATCAG | CCACCTGAAACAGTTATAGACCAG c.1860
A I Y L L T D G R P D Q | P P E T V I D Q p.620
. . . . . . g.135798
GTCAAACGTTTTCAGGAAATTCCTATTTATACCATCTCCTTCAATTACAATGATGAGATT c.1920
V K R F Q E I P I Y T I S F N Y N D E I p.640
. . . . . . g.135858
GCAAACAGGTTTTTGAAAGAGGTTGCTGCTTTGACTGGAGGAGAGTTCCATTTTTATAAT c.1980
A N R F L K E V A A L T G G E F H F Y N p.660
. . . | 15 . . g.146091
TTTGGTTGCAAGGATCCCACTCCCCCAGAGGCTGTTCAG | AATGAAGATCTGACTCTTTTA c.2040
F G C K D P T P P E A V Q | N E D L T L L p.680
. . . . . . g.146151
GTTAAGGAAATGGAACAGGGTCACAGTGATCTGGAGAAGATGCAAGACCTTTATTCTGAG c.2100
V K E M E Q G H S D L E K M Q D L Y S E p.700
. . . . . | 16 . g.147928
TCCTTGATCATGGACTGGTGGTACAATGCAGAAAAGGATGGAGACAGCAA | GCATCAAAAG c.2160
S L I M D W W Y N A E K D G D S K | H Q K p.720
. . . . . . g.147988
GAAATCTGTTCTATGATTTCAACCCCAGAAAAGTGTGCAAAGCCTCAATCTGATGTCGAT c.2220
E I C S M I S T P E K C A K P Q S D V D p.740
. . . . . . g.148048
TCAACACAAACTTCATCTCTGAATATGTTGAAGGGACCATGGGGCCTTTCAGATCAAAAG c.2280
S T Q T S S L N M L K G P W G L S D Q K p.760
. . | 17 . . . g.152548
GTTCAGAAAAAGAAAGTCCTTCACGCAG | AATCAACCAAAACCAGCCTGCTCAGAAGCCAG c.2340
V Q K K K V L H A E | S T K T S L L R S Q p.780
. . . . . . g.152608
ATGTCCTCCCTCAGGAGCTCAGCTTGCAGTGAAAGGAAGGATGGCCTCTCCAATGCCAGC c.2400
M S S L R S S A C S E R K D G L S N A S p.800
. . | 18 . . . g.154290
AGCCGGAGGACTGCTCTAAGTGACAAAG | AAATGAGCATCTTGCTGGCTGAGGAGTGGCTG c.2460
S R R T A L S D K E | M S I L L A E E W L p.820
. . . . . | 19 . g.154446
GATGACAAATCGTCAGAAAAGGTGACGCGAGAAGGAAGCCAGGTTTATGACCACGA | TTCT c.2520
D D K S S E K V T R E G S Q V Y D H D | S p.840
. . . . . . g.154506
TCAGATGTGTCTTCAGAAAACTGGCTGAAGACCTATGGCTTGGTCGCCAAGAAACTCACC c.2580
S D V S S E N W L K T Y G L V A K K L T p.860
. . . . . . g.154566
CTCATGGATGCCTTGTCAGTGGCAGCAGTCCCGCACAGCTCCACCTATGTTCCCGTCCTG c.2640
L M D A L S V A A V P H S S T Y V P V L p.880
. . . | 20 . . . g.168213
GACAAGCATGTCGTGTCTAAGGTCTTTGATGAG | GTGTTCCCTCTGGCACATGTGTGCAAC c.2700
D K H V V S K V F D E | V F P L A H V C N p.900
. . . . . . g.168273
GACACAAATAAGATGACATTAATTAACCCCCAAGGAGCCAAACTCAATATCTACAAGCGA c.2760
D T N K M T L I N P Q G A K L N I Y K R p.920
. . . | 21 . . . g.174020
AAAGTGGAACAGGCAATTCAATCCTATGAAAA | GCGCTTGAATAAAATTGTTTGGCGAGCA c.2820
K V E Q A I Q S Y E K | R L N K I V W R A p.940
. . | 22 . . . . g.188587
TTATCTCAAGAGGAAAAAGAAAA | GTTAGATGCAAACAAACCAATACAGTACTTGGAAAAC c.2880
L S Q E E K E K | L D A N K P I Q Y L E N p.960
. . . . . . g.188647
AAAACAGTTTTAAACCAGGCTTTAGAACGGTTGAATTGGCCCATTTCACTGAAAGAGCTG c.2940
K T V L N Q A L E R L N W P I S L K E L p.980
. . . . . . g.188707
TCGATGCTGGAAAGTGAAATCCTAGCTGGGAAAATGTACATCCAGCAGGCCATGGAACTC c.3000
S M L E S E I L A G K M Y I Q Q A M E L p.1000
. . . . | 23 . . g.208394
CAGGAGGCTGCCAAGAAGAATTATGCAAACAAGGCCCCGGGAGAG | CAACAGAAATTGCAA c.3060
Q E A A K K N Y A N K A P G E | Q Q K L Q p.1020
. . . . . . g.208454
GGAAATCCAACAAAGAAAACCAAATCAAAAAGACCAGATCCCCTCAAAGGACAGAAGGTT c.3120
G N P T K K T K S K R P D P L K G Q K V p.1040
. . . | 24. . . g.215798
ATTGCAAGATGTGATGAAAATGGCTTTTATTTTCCAG | GGGTTGTGAAGAAGTGTGTGAGC c.3180
I A R C D E N G F Y F P G | V V K K C V S p.1060
. . . . . . g.215858
CGCACCCAAGCACTGGTGGGCTTCAGTTACGGAGACACCAAGGTCGTGTCCACCTCCTTC c.3240
R T Q A L V G F S Y G D T K V V S T S F p.1080
. . . . | 25 . . g.217965
ATCACGCCTGTGGGGGGCGCCATGCCCTGCCCGCTGCTCCAG | GTTGGAGATTATGTGTTT c.3300
I T P V G G A M P C P L L Q | V G D Y V F p.1100
. . . . . . g.218025
GCCAAAATTGTGATACCCAAAGGATTTGACTTCTATGTCCCTGCCATTGTCATAGCACTT c.3360
A K I V I P K G F D F Y V P A I V I A L p.1120
. . . . . . g.218085
CCCAATAAGCATGTGGCCACAGAAAAATTCTACACAGTTTTGAAGTGTAACAACCGGAGA c.3420
P N K H V A T E K F Y T V L K C N N R R p.1140
| 26 . . . . . . g.221630
| GAATTTTGCCCTCGGAGTGCACTTATTAAGATCAGCCAAAACAAGTATGCGCTCTCTTGC c.3480
| E F C P R S A L I K I S Q N K Y A L S C p.1160
. . . . | 27 . . g.229706
TCTCATATAAAGTCACCCCCAATTCCTGAGGATCCAGAAGT | AGAGGATGTGGAGGCGAGG c.3540
S H I K S P P I P E D P E V | E D V E A R p.1180
. . . . . . g.229766
AACTCTGCTTTCCTCTTCTGGCCACTGAAAGAAGCGGACACGCAGGATTCCAGAGAGCCA c.3600
N S A F L F W P L K E A D T Q D S R E P p.1200
. . . . . . g.229826
AGACGAGAGAAGCCCAGGAGGAAAAAGAGGCCCGCCAAGCAGCCACTCCAGCAGGCGGCG c.3660
R R E K P R R K K R P A K Q P L Q Q A A p.1220
. . . . . . g.229886
CCCTCGGACTCGGACGGCTCCTCCCACGGCATCAGCTCCCATGGGTCCTGCCAGGGGACA c.3720
P S D S D G S S H G I S S H G S C Q G T p.1240
. | 28 . . . . . g.230113
CACCCCGAGCCCAGG | ACAGCCCACCTCCACTTCCCCGCGGCCGGGCGTCTAGGACTCAGC c.3780
H P E P R | T A H L H F P A A G R L G L S p.1260
. . . . . . g.230173
AGCCACGCCATCATTGCCACACCTCCACCTCGAGCAGCCCTGCCCTGTACTCTCCAAGCC c.3840
S H A I I A T P P P R A A L P C T L Q A p.1280
. . . . g.230218
ACCCACAGCAGCAAAGGGCTGAGGAGCGTCCCTGAGACACTTTAA c.3885
T H S S K G L R S V P E T L X p.1294
. . . . . . g.230278
ggccgtctggtggcagctatgtttaagagaccagcgtccttccaggctgttcagacctca c.*60
. . . . . . g.230338
gcgttgacactgaaactggcccctccgcggaggtaaggccgccctccgcgccgcctatgc c.*120
. . . . . . g.230398
ctgccctgtctgtagcaaagactcctctcccctccatccctgctgcctcccctacccgtt c.*180
. . . . . . g.230458
tgacgacttggttctggctttttctgactgttctttatcctgttttccccctgcactcac c.*240
. . . . . . g.230518
aaaattgtattccatcttctggtagacgccccacccccagaagttttaacctgaaggatg c.*300
. . . . . . g.230578
actgtcacaggactttcaaattgtttagcagtcagcatagtcaggatccaagcccgcaat c.*360
. . . . . . g.230638
cttgttttaaattaattatcacatctaaattagagaatttgtcacccaatattaggactg c.*420
. . . . . . g.230698
aaattcagactcggtaacttgtctgagatctgcaagactgaacatcccctactgtatagt c.*480
. . . . . . g.230758
ttcctgacattttcatttagcctttcctaattatttttgtctatagtctgttgtaggtaa c.*540
. . . . . g.230816
ctctaattgagcccgaaaccagaataaaaactcttacattggaaacatttcaaaacca c.*598
(downstream sequence)
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