(used for variant description)
(last modified February 15, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_138959.2 in the VANGL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering VANGL1 transcript NM_138959.2.
(upstream sequence)
. . . g.5031
aggaagcggaaagcagcagtgcagcggcggc c.-241
. . . . . . g.5091
ggcggcggggctctgcctctccaggagcccagcgcaggccgcagagccggggccgctgtg c.-181
. . . . . | 02 . g.14341
agccgagaccgcgggccgcggagctcgggcggccggcgcggag | aatttgttcctgttgaa c.-121
. . . . . . g.14401
gagtggctcctcttctaatttccagactccttgaggttttaggagtctggtaggtgaaat c.-61
. . . . . . g.14461
tttctacctctaaggagaaacagtacctgctccttcctcaagcgcaagccctccattgct c.-1
. . . . . . g.14521
ATGGATACCGAATCCACTTATTCTGGATATTCTTACTATTCAAGTCATTCGAAAAAATCT c.60
M D T E S T Y S G Y S Y Y S S H S K K S p.20
. | 03 . . . . . g.22737
CACAGACAAGG | GGAAAGAACTAGAGAGAGACACAAGTCACCCCGGAATAAAGACGGCAGA c.120
H R Q G | E R T R E R H K S P R N K D G R p.40
. . . . . . g.22797
GGGTCAGAAAAGTCTGTCACCATTCAACCTCCCACTGGAGAGCCCCTGTTGGGAAATGAT c.180
G S E K S V T I Q P P T G E P L L G N D p.60
. . | 04 . . . . g.26744
TCTACTCGGACAGAGGAAGTTCAG | GATGACAACTGGGGAGAGACCACCACGGCCATCACA c.240
S T R T E E V Q | D D N W G E T T T A I T p.80
. . . . . . g.26804
GGCACCTCGGAGCACAGCATATCCCAAGAGGACATTGCCAGGATCAGCAAGGACATGGAG c.300
G T S E H S I S Q E D I A R I S K D M E p.100
. . . . . . g.26864
GACAGCGTGGGGCTGGATTGCAAACGCTACCTGGGCCTCACCGTCGCCTCTTTTCTTGGA c.360
D S V G L D C K R Y L G L T V A S F L G p.120
. . . . . . g.26924
CTTCTAGTTTTCCTCACCCCTATTGCCTTCATCCTTTTACCTCCGATCCTGTGGAGGGAT c.420
L L V F L T P I A F I L L P P I L W R D p.140
. . . . . . g.26984
GAGCTGGAGCCTTGTGGCACAATTTGTGAGGGGCTCTTTATCTCCATGGCATTCAAACTC c.480
E L E P C G T I C E G L F I S M A F K L p.160
. . . . . . g.27044
CTCATTCTGCTCATAGGGACCTGGGCACTTTTTTTCCGCAAGCGGAGAGCTGACATGCCA c.540
L I L L I G T W A L F F R K R R A D M P p.180
. . . . . . g.27104
CGGGTGTTTGTGTTTCGTGCCCTTTTGTTGGTCCTCATCTTTCTCTTTGTGGTTTCCTAT c.600
R V F V F R A L L L V L I F L F V V S Y p.200
. . . . . . g.27164
TGGCTTTTTTACGGGGTCCGCATTTTGGACTCTCGGGACCGGAATTACCAGGGCATTGTG c.660
W L F Y G V R I L D S R D R N Y Q G I V p.220
. . . . . . g.27224
CAATATGCAGTCTCCCTTGTGGATGCCCTCCTCTTCATCCATTACCTGGCCATCGTCCTG c.720
Q Y A V S L V D A L L F I H Y L A I V L p.240
. . . . . . g.27284
CTGGAGCTCAGGCAGCTGCAGCCCATGTTCACGCTGCAGGTGGTCCGCTCCACCGATGGC c.780
L E L R Q L Q P M F T L Q V V R S T D G p.260
. . . | 05 . . . g.45439
GAGTCCCGCTTCTACAGCCTGGGACACCTGAG | TATCCAGCGAGCAGCATTGGTGGTCCTA c.840
E S R F Y S L G H L S | I Q R A A L V V L p.280
. . . . . . g.45499
GAAAATTACTACAAAGATTTCACCATCTATAACCCAAACCTCCTAACAGCCTCCAAATTC c.900
E N Y Y K D F T I Y N P N L L T A S K F p.300
. . . . | 06 . . g.47005
CGAGCAGCCAAGCATATGGCCGGGCTGAAAGTCTACAATGTAGATG | GCCCCAGTAACAAT c.960
R A A K H M A G L K V Y N V D G | P S N N p.320
. . . . . . g.47065
GCCACTGGCCAGTCCCGGGCCATGATTGCTGCAGCTGCTCGGCGCAGGGACTCAAGCCAC c.1020
A T G Q S R A M I A A A A R R R D S S H p.340
. . . . . | 07 g.48341
AACGAGTTGTATTATGAAGAGGCCGAACATGAACGGCGAGTAAAGAAGCGGAAAGCAAG | G c.1080
N E L Y Y E E A E H E R R V K K R K A R | p.360
. . . . . . g.48401
CTGGTGGTTGCAGTGGAAGAGGCCTTCATCCACATTCAGCGTCTCCAGGCTGAGGAGCAG c.1140
L V V A V E E A F I H I Q R L Q A E E Q p.380
. . . . . . g.48461
CAGAAAGCCCCAGGGGAGGTGATGGACCCTAGGGAGGCCGCCCAGGCCATTTTCCCCTCC c.1200
Q K A P G E V M D P R E A A Q A I F P S p.400
. . . . . . g.48521
ATGGCCAGGGCTCTCCAGAAGTACCTGCGCATCACCCGGCAGCAGAACTACCACAGCATG c.1260
M A R A L Q K Y L R I T R Q Q N Y H S M p.420
. . . . . | 08 . g.54172
GAGAGCATCCTGCAGCACCTGGCCTTCTGCATCACCAACGGCATGACCCCCAAG | GCCTTC c.1320
E S I L Q H L A F C I T N G M T P K | A F p.440
. . . . . . g.54232
CTAGAACGGTACCTCAGTGCGGGCCCCACCCTGCAATATGACAAGGACCGCTGGCTCTCT c.1380
L E R Y L S A G P T L Q Y D K D R W L S p.460
. . . . . . g.54292
ACACAGTGGAGGCTTGTCAGTGATGAGGCTGTGACTAATGGATTACGGGATGGAATTGTG c.1440
T Q W R L V S D E A V T N G L R D G I V p.480
. . . . . . g.54352
TTCGTCCTTAAGTGCTTGGACTTCAGCCTCGTAGTCAATGTGAAGAAAATTCCATTCATC c.1500
F V L K C L D F S L V V N V K K I P F I p.500
. . . . . . g.54412
ATACTCTCTGAAGAGTTCATAGACCCCAAATCTCACAAATTTGTCCTTCGCTTACAGTCT c.1560
I L S E E F I D P K S H K F V L R L Q S p.520
. g.54427
GAGACATCCGTTTAA c.1575
E T S V X p.524
. . . . . . g.54487
aagttctatatttgtggctttattaaaaaaaaaagaaaaatatatagagagatatatatc c.*60
. . . . . . g.54547
tatgccagaggggtgtcttttttaaaaattcttcttcattgctgactgaaactggcagat c.*120
. . . . . . g.54607
gattgaccagtatcctttgaccatctgcactttatttggaaggaagcaggggctgtccac c.*180
. . . . . . g.54667
cctgaaaaagagtgactgatgacatctgacttttgtcgatgggacttctcaagaagccat c.*240
. . . . . . g.54727
tccttggagcttctgttacagctgtaaaccaaagtggagctggtgcttcttgggagcctc c.*300
. . . . . . g.54787
gccttacaactaattcctgcctttcgtccagtaccaagtcccccgttgcttctggtcagc c.*360
. . . . . . g.54847
ccacttgtagacttccaggggacacatctttattctgtttcaggaaaccagtcacgacac c.*420
. . . . . . g.54907
gtccacatatgtatttgtgtatgttaatgtccagtatcacatcacccatgaaagtcgtgg c.*480
. . . . . . g.54967
gcagttcaggagatacctgccttcatctttgttctttgttgccttaggttcttcagagaa c.*540
. . . . . . g.55027
agatcacaacaaaaaatgtacactgtcgtttacagctattaagtgatttgattttgtttt c.*600
. . . . . . g.55087
tttcccaaagagaaaacctacctgccctgtttctgatcccacccctctgctggcttgaag c.*660
. . . . . . g.55147
caggtaaccctttcccagccctgcagctgcccacctggcctccatgccatcctgccccca c.*720
. . . . . . g.55207
cctggctggcagccctggctctccatgtgtgccctccggctctgtgtgaagcctcaagtc c.*780
. . . . . . g.55267
agtcccagcattgtttccatagggaagtgtggggtgcccagcaggtaaagcacagggaga c.*840
. . . . . . g.55327
gagggcagtgggaatgccacctttaggctgcagcaggagccccacactgcccagttttcc c.*900
. . . . . . g.55387
tccccactgttctacaccaaccaggggagactaacactgtgactctgggattggcaggtg c.*960
. . . . . . g.55447
caacttggagccacttaatttcctggggacgtaagttcttcccaagcttagagcaagctg c.*1020
. . . . . . g.55507
ccctgccaaaggagaccaaaccatgccaaccacgctggcaactgctgctgtccagtccct c.*1080
. . . . . . g.55567
gtgttttctgaccaccgtcactgtgcaactcatcgcctctgccacttaggaccaggaaag c.*1140
. . . . . . g.55627
aggctggttttgctcccactcttagttgctgataaagtggggagaaggaaaatggacact c.*1200
. . . . . . g.55687
ctacagagtttggggaagggagagtagggagcccatcttgtccagaaagattcatctgtg c.*1260
. . . . . . g.55747
gtctgtctgttaaacacagctgatttcagtgggctttcccctggccctgggggagcagac c.*1320
. . . . . . g.55807
actgactgggttgtgggcagaggagccatcctggcggagccctgctgcaggggagctcct c.*1380
. . . . . . g.55867
tcaggagccccatccggacctcttgcactgggctgcctttgcctccatttgccttcctgt c.*1440
. . . . . . g.55927
atctgcaacaaaccttttaaaagtgttcactcttgctttttccagtatttcggtaatcag c.*1500
. . . . . . g.55987
ccatcttgctgtagtacaggatgacattgtcgaatgctctttgtatgtgtgcacaccccc c.*1560
. . . . . . g.56047
ttactcccttactgcttcatacactccacaagtggtacagtattttgtgtcattgtaaaa c.*1620
. . . . . . g.56107
atcaaaattggctttggatctttgtaatacacctgtacctgaaaaagtaaacaacattct c.*1680
. . . . . . g.56167
tcaattactagccttcagcttgaaaagacatgctggagaagaaggaagggggaacccata c.*1740
. . . . . . g.56227
ggtgtggcgtggagccaagatgtactattcaactatgtgtttctgtttataaaaaacaca c.*1800
. . . . . . g.56287
taccatggaaccatggtgcttttgttcttagtttttgccgttagatcccttcaaactgga c.*1860
. . . . . . g.56347
agttccttacaatatctttctcaggaaatattttgggaaatggggtaagagatggcaagt c.*1920
. . . . . . g.56407
gtgagacgggctgtgtcagaggttgctacgtcatggatacagtgcagttccaagtgccat c.*1980
. . . . . . g.56467
aagtgtatgtacatatagttaataatgacactgttcatcaccattctaaaatactgttct c.*2040
. . . . . . g.56527
tccaaccctatcttcaatgaccagtccagaaggggttaagctggattcatttgctctggc c.*2100
. . . . . . g.56587
atgtgcattcccagcagggtgaagaaaggtttaaattaaagaatttattttctctctccc c.*2160
. . . . . . g.56647
ccttcctctttctcccagtctttgcataggagaatgttagacattcagaaattactgttt c.*2220
. . . . . . g.56707
ctgttttaaattgagtattgatttttttatattgactttgtattgagttctttttgaaag c.*2280
. . . . . . g.56767
aataacaaaataaaatgcaggatctttgtaaagcctttgcactttcaacctctttatagc c.*2340
. . . . . . g.56827
ttgagttacttttgcagtgggaacaatgtaaatgacatttaaaagatttaaggtttcaga c.*2400
. . . . . . g.56887
aagctgcatcccacaattgaacacaatgcatttttatttcaattcttggaactggtaggc c.*2460
. . . . . . g.56947
tattctttttaaaagggggtaaacttcgccctaaggctggtagaatgtatgttcacatta c.*2520
. . . . . . g.57007
tagtagacaggatttcatttgccttatatgtttatagattttttataattttcatcctac c.*2580
. . . . . . g.57067
gttattaaaattagagcattgagtgttaaagaacttaatgaggagtctatatctgagatt c.*2640
. . . . . . g.57127
gctctcttccctggtgatgttttaactggtagataatttgttcttaaatatgtacttttg c.*2700
. . . . . . g.57187
aagataggacagtttttatagtccatgaactgaatgttaaaaagttctgtatgcattctc c.*2760
. . . . . . g.57247
agagaggattttaaagctatatagttcatccatcctttgcattatcaaaatgttaagtca c.*2820
. . . . . . g.57307
aatctgtaatactttggctaaaattcataaagtaagccctagagaaaatacttgaccacc c.*2880
. . . . . . g.57367
aaatttttgcccaactatcatcacctcccttcccccgcctctgttcttgccttttgacat c.*2940
. . . . . . g.57427
ctacatggaagacaagttctttacagcaaatggtaagaggcaggtgacctggtgtgtttg c.*3000
. . . . . . g.57487
ctgtgttgtagttcattgcctggggcttgggactccttttttaatggagagactagctgt c.*3060
. . . . . . g.57547
gcaggtgtgtgttggatagggataaagtgctcacccctgccctctctacagtagttggtg c.*3120
. . . . . . g.57607
gtagatttctctctcattttgcctcataatcactttcgagtgcatgtatttacctaaggg c.*3180
. . . . . . g.57667
ctgtagctctgtgggatgctaccagcatattggactgacagaaattgattaccttgccac c.*3240
. . . . . . g.57727
tccaacctacgtactgagtgagtgctccagccactcagtgaaaccaacaaaagtgagtcc c.*3300
. . . . . . g.57787
ttggtttaccttccaatctgggtcctgctgtgtaagtatccctaagtggggatgcatatt c.*3360
. . . . . . g.57847
tgtttgtgcgtttttatttccatatatgtgagcatttctctgagtgtattaccagacgga c.*3420
. . . . . . g.57907
tagcacatttatatgtcagacatcttaacatctgtgttatctgtagcaggtgtgtagctc c.*3480
. . . . . . g.57967
agcagatacgtgtcattgtgtatatagctgagtgtgtgagggtgtctgtgtttctgcagt c.*3540
. . . . . . g.58027
cccctgtgtttgagagatgacttaataaccctgtgttttgagaggtcgctctaaaccagt c.*3600
. . . . . . g.58087
gacttttccctcccctgctttattcctttccctcactgacactggcttctcccgctagag c.*3660
. . . . . . g.58147
taaatggctttagcacagcactgtcttctggggagcctgctgtcctgcaggcaagtccat c.*3720
. . . . . . g.58207
taaactctttcttgctttaggactctgaaaacagcaagaaacaaacaaacaaaggtcaag c.*3780
. . . . . . g.58267
ctctaagaaaattactgctcaaacttcactaccctggaagccttactagatatttcttaa c.*3840
. . . . . . g.58327
ggtaacttaaaaattgggctttatttttaaaaagtgataggttacttacagtagcacaga c.*3900
. . . . . . g.58387
aatgttagcatatttatttaaatagtcctgcagcagagaccctgcgattgtaaagtgatt c.*3960
. . . . . . g.58447
taagtatttctgggtagtgtttgtgatttacggatttgttactgaaaaacaaaaaaatca c.*4020
. . . . . . g.58507
ctactgtgaatttactactatgtaaccttgtggtcgtatttcattataaataaaataaga c.*4080
. . . . . . g.58567
attgctcttctgcccaccgttcttgattggtattcagtgcagtagcgaaatgagatagtt c.*4140
. . . . . . g.58627
tagacactgttgaaataactgcattgagctttaaccaagtgtatgctcagaaaattcagt c.*4200
. . . . . . g.58687
tttggatcacattttgacaaaacatgttttggtcaaagaaaggaaaggctactaacacat c.*4260
. . . . . . g.58747
ttatcaggtaatgtatgtcacagtccgtgttccacccagccttgttatccccacattctt c.*4320
. . . . . . g.58807
tcaagataggagtcatcttggtttttcgggtgaaaaacggaaggtcagagaggaaggggc c.*4380
. . . . . . g.58867
ttgtccaaggtctcatgtctggttaacagaatttcaaactagatgtttgattctaacccc c.*4440
. . . . . . g.58927
tcagtccactgtaccttgaagtatggtctaaatgattcggcacttctggatgttgaggaa c.*4500
. . . . . . g.58987
ggacctagagacacatccttgaactagaacctggggtgagagttcattgggaggcaggat c.*4560
. . . . . . g.59047
ctcttctttcactttggatttacaccttgtcccttggaaagcttctccactatgctagca c.*4620
. . . . . . g.59107
aatatcttaggatatttgatggaaagaacttgagaatcccttctggaaaacccagccttt c.*4680
. . . . . . g.59167
cagtgttaacacctgctgcaagacagggatgctgttgttctggcagcccccctttgcttt c.*4740
. . . . . . g.59227
tgcctggccccaccttctgctcccactctgctggcttgggcaagatgcgtgccttgggcc c.*4800
. . . . . . g.59287
ttgggtgcagggaggcaggcaggggcttgacctggcctctctctggtgccatggcaacat c.*4860
. . . . . . g.59347
tatgccccaaacttcttccctggttggagtgagaggggctgtccacagccccatcctgtg c.*4920
. . . . . . g.59407
gggatctcaagccggagtccctggcctggcctccttgacgtaggtgttctcagcaagcag c.*4980
. . . . . . g.59467
tttgcatcccaccgtctttctcacacttgcccccaagacttttgacagagcagacgtaaa c.*5040
. . . . . . g.59527
acaggactcagaaaaccatttttctctgttcccatatgtagtaagttttgattcagttgt c.*5100
. . . . . . g.59587
gcataaaccatagttttctgccctgctgtttgctttcaatggaagacagtaaagggaaga c.*5160
. . . . . . g.59647
tggtgctcacatctctccatgtgacatctcattaggaattaagatgcgatggattagaaa c.*5220
. . . . . . g.59707
tgtaaaacttcagaataaaattaaatttcagggctctataagtcccgttttcccaggtcc c.*5280
. . . . . . g.59767
tgttccgtttctacgtagataacccaatttgttttgtctatgaaataagcctctttagtg c.*5340
. . . . . . g.59827
ggttgttttagtctctccaacaaaagagcagattcctaaagccaggtgcagcactgtgaa c.*5400
. . . . . . g.59887
aagtttctttcaatatggcaccaagactctaccatttatgtctctctcagcttacaaaca c.*5460
. . . . . . g.59947
tcagcgttttgtccttgtcatagtggaagaaagacacttactttaagctttggggacaaa c.*5520
. . . . . . g.60007
ggtgacaaaccccaggcttttatcttaaaagtgtctttggcacttcttttggcactgaaa c.*5580
. . . . . . g.60067
tggtatttgggaagcattatttgaatgtacagttgtttggttttgtatgtgcttatcttt c.*5640
. . . . . . g.60127
atctgagctttcacttgtagacatggccttttgttgtgaagttgctcatcatttaggagt c.*5700
. . . . . . g.60187
gtttaattctaaaaagccttcagcctaagaaagcttcatctgtggggaccagagacttgt c.*5760
. . . . . . g.60247
tgctcagggagttagtgatgggacttgggcatctgatctgcaggtgacaagtttagttca c.*5820
. . . . . . g.60307
actgaagttgtagggaatttagacagttgcacatcattgccgttctaggggccttgtaga c.*5880
. . . . . . g.60367
aagatgaaacagttgtttttcatttaccagcacctctcagttatagaggtaatggaacat c.*5940
. . . . . . g.60427
tcgcttacttttcatcatcattctttaaaaagggaacatacaaaaatctaaactatggca c.*6000
. . . . . . g.60487
ataatttatttttataatagtttacggtaggctttaattaaatggcaaactcctctggga c.*6060
. . . . . . g.60547
cccctaagttatggcgtgattagccaaatttgatttccaacagtcatttatggccataac c.*6120
. . . . . . g.60607
tattgcatagagtgcaggatgccagcaaagatgagggtgggggcagatactggctcagtg c.*6180
. . . . . . g.60667
atttaactcacattatagatgaccccttcctcaacagaaatgctactgagagaaccagag c.*6240
. . . . . . g.60727
aggcctgggccaggcaggtcttatttgagaggagattatttgataattgctttggttaga c.*6300
. . . . . . g.60787
aggactttacatttcctgatttcaagtccagcaccaatttagaaagttcagagatgaaac c.*6360
. . . . . . g.60847
cacctgtctttacctgacagagtcataacggtttgtgtaaaaatgtggtcagggaccttt c.*6420
. . . . . . g.60907
tttgttctttctgattagttaatactgtacattgtaaccaggaggggcagttttgccaac c.*6480
. . . . . . g.60967
cagcctctgctcatggtcaccatatgtgtatgacaaggcctgagtgagttcctgcataaa c.*6540
. . . . . . g.61027
ctgggtagtgggctcttttgacacatttgcaagcatgtaaatgaatgaatgacactacca c.*6600
. . . . . . g.61087
gcaaccatctgtacaggtccatttacttacattcataaggtttatgctatgaaacttctt c.*6660
. . . . . . g.61147
ctcattgtgatgtcagtaacagagttagtgtctctgatggaatagtgtacctgtcaccca c.*6720
. . . . . . g.61207
agttattttgttcctttttgggtcctccagtataatccccccctcatcccaattaactgt c.*6780
. . . . . . g.61267
aaaatgttttacacatcacattttttatactgtaaacttggaaaataaactgaaatatca c.*6840
g.61272
aattg c.*6845
(downstream sequence)
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