(used for variant description)
(last modified August 18, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000020.2 in the ACVRL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009549.1, covering ACVRL1 transcript NM_000020.2.
(upstream sequence)
. . . . g.5043
aggaaacggtttattaggagggagtggtggagctgggccaggc c.-241
. . . . . . g.5103
aggaagacgctggaataagaaacatttttgctccagcccccatcccagtcccgggaggct c.-181
. . . . . . g.5163
gccgcgccagctgcgccgagcgagcccctccccggctccagcccggtccggggccgcgcc c.-121
. . . . . . g.5223
cggaccccagcccgccgtccagcgctggcggtgcaactgcggccgcgcggtggaggggag c.-61
. . . . . . | 02 g.10057
gtggccccggtccgccgaaggctagcgccccgccacccgcagagcgggcccagag | ggacc c.-1
. . . . . . g.10117
ATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAG c.60
M T L G S P R K G L L M L L M A L V T Q p.20
| 03 . . . . . . g.10740
G | GAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGACCTGCACGTGTGAGAGCCCACAT c.120
G | D P V K P S R G P L V T C T C E S P H p.40
. . . . . . g.10800
TGCAAGGGGCCTACCTGCCGGGGGGCCTGGTGCACAGTAGTGCTGGTGCGGGAGGAGGGG c.180
C K G P T C R G A W C T V V L V R E E G p.60
. . . . . . g.10860
AGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGC c.240
R H P Q E H R G C G N L H R E L C R G R p.80
. . . . . . g.10920
CCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCC c.300
P T E F V N H Y C C D S H L C N H N V S p.100
. | 04 . . . . . g.11188
CTGGTGCTGGAGG | CCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCC c.360
L V L E A | T Q P P S E Q P G T D G Q L A p.120
. . . . . . g.11248
CTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTG c.420
L I L G P V L A L L A L V A L G V L G L p.140
. . . . . . g.11308
TGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCC c.480
W H V R R R Q E K Q R G L H S E L G E S p.160
. . . . | 05 . . g.11571
AGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGG | GACCTCCTGGACAGT c.540
S L I L K A S E Q G D S M L G | D L L D S p.180
. . . . . . g.11631
GACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGG c.600
D C T T G S G S G L P F L V Q R T V A R p.200
. . | 06 . . . . g.12056
CAGGTTGCCTTGGTGGAGTGTGTGG | GAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTG c.660
Q V A L V E C V G | K G R Y G E V W R G L p.220
. . . . . . g.12116
TGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTC c.720
W H G E S V A V K I F S S R D E Q S W F p.240
. . . . . | 07 . g.12815
CGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAG | GCTTCATC c.780
R E T E I Y N T V L L R H D N I L G | F I p.260
. . . . . . g.12875
GCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCAC c.840
A S D M T S R N S S T Q L W L I T H Y H p.280
. . . . . . g.12935
GAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTG c.900
E H G S L Y D F L Q R Q T L E P H L A L p.300
. . . . . . g.12995
AGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACA c.960
R L A V S A A C G L A H L H V E I F G T p.320
. . . . . . g.13055
CAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGC c.1020
Q G K P A I A H R D F K S R N V L V K S p.340
. . | 08 . . . g.13650
AACCTGCAGTGTTGCATCGCCGACCTGG | GCCTGGCTGTGATGCACTCACAGGGCAGCGAT c.1080
N L Q C C I A D L G | L A V M H S Q G S D p.360
. . . . . . g.13710
TACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTG c.1140
Y L D I G N N P R V G T K R Y M A P E V p.380
. . . . . . g.13770
CTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCC c.1200
L D E Q I R T D C F E S Y K W T D I W A p.400
. . . . | 09 . . g.16581
TTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATG | GCATCGTGGAGGAC c.1260
F G L V L W E I A R R T I V N G | I V E D p.420
. . . . . . g.16641
TATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAG c.1320
Y R P P F Y D V V P N D P S F E D M K K p.440
. . . . . | 10. g.18344
GTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCG | GTC c.1380
V V C V D Q Q T P T I P N R L A A D P | V p.460
. . . . . . g.18404
CTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTC c.1440
L S G L A Q M M R E C W Y P N P S A R L p.480
. . . . . . g.18464
ACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAA c.1500
T A L R I K K T L Q K I S N S P E K P K p.500
. g.18476
GTGATTCAATAG c.1512
V I Q X p.503
. . . . . . g.18536
cccaggagcacctgattcctttctgcctgcagggggctgggggggtggggggcagtggat c.*60
. . . . . . g.18596
ggtgccctatctgggtagaggtagtgtgagtgtggtgtgtgctggggatgggcagctgcg c.*120
. . . . . . g.18656
cctgcctgctcggcccccagcccacccagccaaaaatacagctgggctgaaacctgatcc c.*180
. . . . . . g.18716
cctgctgtctggcctgctcaaagcggcaggctccctgacgcctggctctctccccacccc c.*240
. . . . . . g.18776
tatggccagcatggtgcaccccctaccactcccgggacaggatgcaaaagaggctccaga c.*300
. . . . . . g.18836
gtcagagtgccaagccagggaatcccagtcccagactcagagcccgggcctgcactttgc c.*360
. . . . . . g.18896
cccctgcccttgatcaaccccactgccccaccagagctgccagggtggcacagggccctg c.*420
. . . . . . g.18956
tccagcccctggcacacacttccctgccaggcctcagcctctagcataagctccagagag c.*480
. . . . . . g.19016
ccagggcccatcagtttctctctgtggatttgtatctcagctccatgatgccttgggctt c.*540
. . . . . . g.19076
tctgtctcctcaacaagagtgcagcttgctgaatgtcagctgcctgagagagctggggcc c.*600
. . . . . . g.19136
tgacttactagggcattaaatcctaagaggtcctactgaggtgtggcaggatcacaggcc c.*660
. . . . . . g.19196
agtggaaaaagggcaggtcagatgggcaaggcccaggactttcagattaactgagaggat c.*720
. . . . . . g.19256
atcgaggccaagcatggcagggggaaggtcagtgggtgtcaagagacccaggtctgaccc c.*780
. . . . . . g.19316
cggatgtttgctccatgtgacaaaagcaggcctgtctcaggaccttttcttttctttttt c.*840
. . . . . . g.19376
ccttctttttttttttgacacggagtttcgctcttgttgtccaggctagagtgcaatggc c.*900
. . . . . . g.19436
atgatcccagctcaccgcaacgtctacctcccaggttcaaatcattctcttgcctcagac c.*960
. . . . . . g.19496
tcccgagtagctgggattacaggcacatgccaccatgcctggctaattttgtatatttag c.*1020
. . . . . . g.19556
tagaaacagggtttcaccatgctggccatgctggtctcgaactcctgacctcaggtgttc c.*1080
. . . . . . g.19616
cacctacctcagcctcccaaagtgctggggttacaggtgtgagccatcgcgcctggccag c.*1140
. . . . . . g.19676
gacctttgtttcttatctacatattggaagatttggtcctgatgtcctttgaggcttctt c.*1200
. . . . . . g.19736
tagctctagttctctgacacttcagcctatatcacagctaacttcttcagtctcatctat c.*1260
. . . . . . g.19796
tccttatgctccagcccctggcaatttgcctcaagatgggggtttgaaaataactttacc c.*1320
. . . . . . g.19856
tgactcaaggagtgtctggagcacctcctagtctaagtctgcaagctccagttcttgcct c.*1380
. . . . . . g.19916
aaaaccatgccagtggccacccttgggctcagacagctctgggccttttgaccacaagcc c.*1440
. . . . . . g.19976
agcccctcgccctctctgtggcatagtcttctctgccccaggactgcagggcggcttcct c.*1500
. . . . . . g.20036
ccaaggcttccaaggctcaaaagaaatttggctccatccaagaaggctccagctccccta c.*1560
. . . . . . g.20096
ctggcccctggctcaggcccacacccctggccaggcccagagagtgtgtctcaggagaat c.*1620
. . . . . . g.20156
tcaatggctctagagagacacacagaaagtttggcatttggaaatttcaaggatgtatgt c.*1680
. . . . . . g.20216
atgctcacgtatggagcaggttgtcctggtccctgggtgcagggaagtgggctgcaggga c.*1740
. . . . . . g.20276
agtggattggaggggagcttgaggaatataaggagcgggggtggagactcaggctatgga c.*1800
. . . . . . g.20336
caaggacagccccaaggttgggaagacctggccttagtcgtcctcagcctaggggcaggg c.*1860
. . . . . . g.20396
cagtgaagaaagctctccccgctcctgctgtaatgacccagagtagcctccccaggccgg c.*1920
. . . . . . g.20456
catcttatgtgtgtcttccaccatcctcatggtggcacttttctaggcctgtctcccagc c.*1980
. . . . . . g.20516
attgtgcaaggctcggaagagaaccaggaagtgaaactgggtgaaaacagaaagctcaat c.*2040
. . . . . . g.20576
ggatgggctaggttcccagatcattagggcagagtttgcacgtcctctggtcactggaat c.*2100
. . . . . . g.20636
ccacccagcccacgaatcatctccctcttgaaggattttatttctactgggttttggaac c.*2160
. . . . . . g.20696
aaactcctgctgagaccccacagccagaaactgaaagcagcagctccccaaagcctggaa c.*2220
. . . . . . g.20756
aatccctaagagaaggcctggggcaggaagtggagtgacaggggacaggtagagagaagg c.*2280
. . . . . . g.20816
gggcccaatggccagggagtgaaggaggtggcgttgctgagagcagtctgcacatgcttc c.*2340
. . . . . . g.20876
tgtctgagtgcaggaaggtgttccagggtcgaaattacacttctcgtacctggagacgct c.*2400
. . . . . . g.20936
gtttgtgggagcactgggctcatgcctggcacacaataggtctgcaataaaccatggtta c.*2460
g.20944
aatcctga c.*2468
(downstream sequence)
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