(used for variant description)
(last modified January 28, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001001557.2 in the GDF6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008981.1, covering GDF6 transcript NM_001001557.2.
(upstream sequence)
. . . . g.5040
cccgaggagccgggccccggccgctgtccagccgctccgt c.-61
. . . . . . g.5100
gccccgcgcgtcctgcgccgccgccaccgcctcctggggagacgcagccacttgcccgcc c.-1
. . . . . . g.5160
ATGGATACTCCCAGGGTCCTGCTCTCGGCCGTCTTCCTCATCAGTTTTCTGTGGGATTTG c.60
M D T P R V L L S A V F L I S F L W D L p.20
. . . . . . g.5220
CCCGGTTTCCAGCAGGCTTCCATCTCATCCTCCTCGTCGTCCGCCGAGCTGGGTTCCACC c.120
P G F Q Q A S I S S S S S S A E L G S T p.40
. . . . . . g.5280
AAGGGCATGCGAAGCCGCAAGGAAGGCAAGATGCAGCGGGCGCCGCGCGACAGTGACGCG c.180
K G M R S R K E G K M Q R A P R D S D A p.60
. . . . . . g.5340
GGCCGGGAGGGCCAGGAACCACAGCCGCGGCCTCAGGACGAACCCCGGGCTCAGCAGCCC c.240
G R E G Q E P Q P R P Q D E P R A Q Q P p.80
. . . . . . g.5400
CGGGCGCAGGAGCCGCCAGGCAGGGGTCCGCGCGTGGTGCCCCACGAGTACATGCTGTCA c.300
R A Q E P P G R G P R V V P H E Y M L S p.100
. . . . . . g.5460
ATCTACAGGACTTACTCCATCGCTGAGAAGCTGGGCATCAATGCCAGCTTTTTCCAGTCT c.360
I Y R T Y S I A E K L G I N A S F F Q S p.120
. . . . | 02 . . g.20282
TCCAAGTCGGCTAATACGATCACCAGCTTTGTAGACAGGGGACTAG | ACGATCTCTCGCAC c.420
S K S A N T I T S F V D R G L D | D L S H p.140
. . . . . . g.20342
ACTCCTCTCCGGAGACAGAAGTATTTGTTTGATGTGTCCATGCTCTCAGACAAAGAAGAG c.480
T P L R R Q K Y L F D V S M L S D K E E p.160
. . . . . . g.20402
CTGGTGGGCGCGGAGCTGCGGCTCTTTCGCCAGGCGCCCTCAGCGCCCTGGGGGCCACCA c.540
L V G A E L R L F R Q A P S A P W G P P p.180
. . . . . . g.20462
GCCGGGCCGCTCCACGTGCAGCTCTTCCCTTGCCTTTCGCCCCTACTGCTGGACGCGCGG c.600
A G P L H V Q L F P C L S P L L L D A R p.200
. . . . . . g.20522
ACCCTGGACCCGCAGGGGGCGCCGCCGGCCGGCTGGGAAGTCTTCGACGTGTGGCAGGGC c.660
T L D P Q G A P P A G W E V F D V W Q G p.220
. . . . . . g.20582
CTGCGCCACCAGCCCTGGAAGCAGCTGTGCTTGGAGCTGCGGGCCGCATGGGGCGAGCTG c.720
L R H Q P W K Q L C L E L R A A W G E L p.240
. . . . . . g.20642
GACGCCGGGGAGGCCGAGGCGCGCGCGCGGGGACCCCAGCAACCGCCGCCCCCGGACCTG c.780
D A G E A E A R A R G P Q Q P P P P D L p.260
. . . . . . g.20702
CGGAGTCTGGGCTTCGGCCGGAGGGTGCGGCCTCCCCAGGAGCGGGCCCTGCTGGTGGTA c.840
R S L G F G R R V R P P Q E R A L L V V p.280
. . . . . . g.20762
TTCACCAGATCCCAGCGCAAGAACCTGTTCGCAGAGATGCGCGAGCAGCTGGGCTCGGCC c.900
F T R S Q R K N L F A E M R E Q L G S A p.300
. . . . . . g.20822
GAGGCTGCGGGCCCGGGCGCGGGCGCCGAGGGGTCGTGGCCGCCGCCGTCGGGCGCCCCG c.960
E A A G P G A G A E G S W P P P S G A P p.320
. . . . . . g.20882
GATGCCAGGCCTTGGCTGCCCTCGCCCGGCCGCCGGCGGCGGCGCACGGCCTTCGCCAGT c.1020
D A R P W L P S P G R R R R R T A F A S p.340
. . . . . . g.20942
CGCCATGGCAAGCGGCACGGCAAGAAGTCCAGGCTACGCTGCAGCAAGAAGCCCCTGCAC c.1080
R H G K R H G K K S R L R C S K K P L H p.360
. . . . . . g.21002
GTGAACTTCAAGGAGCTGGGCTGGGACGACTGGATTATCGCGCCCCTGGAGTACGAGGCC c.1140
V N F K E L G W D D W I I A P L E Y E A p.380
. . . . . . g.21062
TATCACTGCGAGGGTGTATGCGACTTCCCGCTGCGCTCGCACCTGGAGCCCACCAACCAC c.1200
Y H C E G V C D F P L R S H L E P T N H p.400
. . . . . . g.21122
GCCATCATCCAGACGCTGATGAACTCCATGGACCCCGGCTCCACCCCGCCCAGCTGCTGC c.1260
A I I Q T L M N S M D P G S T P P S C C p.420
. . . . . . g.21182
GTGCCCACCAAATTGACTCCCATCAGCATTCTATACATCGACGCGGGCAATAATGTGGTC c.1320
V P T K L T P I S I L Y I D A G N N V V p.440
. . . . g.21230
TACAAGCAGTACGAGGACATGGTGGTGGAGTCGTGCGGCTGCAGGTAG c.1368
Y K Q Y E D M V V E S C G C R X p.455
. . . . . . g.21290
cggtgcctttcccgccgccttggcccggaaccaaggtgggccaaggtccgccttgcaggg c.*60
. . . . . . g.21350
gaggcctggctgcagagaggcggaggaggaagctggcgctgggggaggctgagggtgagg c.*120
. . . . . . g.21410
gaacagcctggatgtgagagccggtgggagagaagggagcgcagccttcccagtaacttc c.*180
. . . . . . g.21470
tacctgccagcccagagggaaatatggattttcacaccttgcctggccaccctggaaaaa c.*240
. . . . . . g.21530
caagccaaggaggatttcttttgttctgttttctctctctctctctctctctctctctct c.*300
. . . . . . g.21590
ctctctctctctctctctattactgtggctttggatttccttatgtgtcttacaggcttt c.*360
. . . . . . g.21650
gatagaaggggaggggaggagagatgcatacccgtttctcaactgctccatggattgaaa c.*420
. . . . . . g.21710
aaataacagtttaaaaagggaaacaatgtgggaggaagaatcaccgttgacgcatcttga c.*480
. . . . . . g.21770
tttggttggtttttacatgtgtaaagaaggtggggtctctggccatgtcatagcccatgt c.*540
. . . . . . g.21830
cttgtgccctcccacacagaaagtgttagatagggaaattggcaaaaagaatagttaagt c.*600
. . . . . . g.21890
caggaatggtcctgcctatagaagagctttgagagaggtgggcccacgggtgcccctctc c.*660
. . . . . . g.21950
acccatttgtgtactctgtgagtttaccagctctgccctggcctctttcggtaccaggaa c.*720
. . . . . . g.22010
ctggcaaccttcatctcactcctgagggcccaggtctctgccttcattgttgctttttct c.*780
. . . . . . g.22070
ggtgggggcaaggggagctggtatggatggaatgacaagaattagtccaaatggaacccc c.*840
. . . . . . g.22130
ttgaaggataatgagaaaccacaaggcctgcctctgactggggctgacacggaggtgcat c.*900
. . . . . . g.22190
tagcccaggctggaggtagcccacccaaatgccctttctgattctaattgatttctttca c.*960
. . . . . . g.22250
acagaatttgccaaaattcagacatgcacttctaaggggaaggtgattttccagttcaaa c.*1020
. . . . . . g.22310
aaaatgggcaggagtggggaacaaaacaattaacgtaagagctacaaaggagggaaaagg c.*1080
. . . . . . g.22370
aaccaagaagtagaaggagtcccatcaggagggaagatggtgggcctcagggaggatggg c.*1140
. . . . . . g.22430
gatcaagggacaggccaggagccaggagtggggaagggagggatgaaaggggacacaagt c.*1200
. . . . . . g.22490
ccctgtctctgaagtttctttaaaatctgagttccctcccctctctttgacattcctgaa c.*1260
. . . . . . g.22550
agattaccagccagcaatagcccagggctcccccaaaagaattggttcagattgtaatta c.*1320
. . . . . . g.22610
tcagttaggcaatgtttttaaaacttagtaatgagaaactgtgaaaagagccaagtgtta c.*1380
. . . . . . g.22670
cattgagcttggggtgggagatggggaacaggcagtgaggaaggagacaggggtggaatt c.*1440
. . . . . . g.22730
cgtcttctgggaggaagctggagagagcacagtgaaattgaaatacccattcccagatag c.*1500
. . . . . . g.22790
tcaaaaacatgaactttcccccagcctgcaccagtattgttttcaaacattgcccatgag c.*1560
. . . . . . g.22850
taggccctttgaagagttagcttcctcctcatctttgactataaaattgtttaatcaatg c.*1620
. . . . . . g.22910
gaatttgtaccagccttttaaaaagttttagtttttcctaagtgattttgctctcttcca c.*1680
. . . . . . g.22970
atctaaacctgttgcttgtttggttcagagaactacaaactgtcaaagaaagggtgggga c.*1740
. . . . . . g.23030
tgataagaaatgctaatataaaaatgctaagtgaaaaaaagacttggccaggagaaataa c.*1800
. . . . . . g.23090
tttaaaatgcacatttgctttggatgcactgttgttctgttaaggctgtatatatttgtt c.*1860
. . . . . . g.23150
tatttaaggtgactgaaagtgcaaagaggaaatggacagcatgcaattcatcctaatgta c.*1920
. . . . . . g.23210
caaaacgttatatgcactcaaatgttataatttctaatatttttaaagtttatattcgag c.*1980
. . . . . . g.23270
ttgtacaaagttaagcattaatcagatatttcattttttcataatgttaccattttctta c.*2040
. . . . . . g.23330
aatattattacaaaattttaagtctgtctaatggagagttttttttaaactgtctacctc c.*2100
. . . . . . g.23390
atataatacaagtatttacaacgctaaagttaccagaggtcaatgaataatcaaaacatt c.*2160
. . . . . . g.23450
ttttacagtacacctttcctggatgatatgcaatcgaatgctatattattaaacgcattt c.*2220
. g.23463
ttctccttaataa c.*2233
(downstream sequence)
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