(used for variant description)
(last modified November 28, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000115.3 in the EDNRB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011630.2, covering EDNRB transcript NM_000115.3.
(upstream sequence)
. . . . . g.5054
acattccggtgggggactctggccagcccgagcaacgtggatcctgagagcact c.-181
. . . . . . g.5114
cccaggtaggcatttgccccggtgggacgccttgccagagcagtgtgtggcaggcccccg c.-121
. . . . . . g.5174
tggaggatcaacacagtggctgaacactgggaaggaactggtacttggagtctggacatc c.-61
. | 02 . . . . g.61956
tgaaacttg | gctctgaaactgcggagcggccaccggacgccttctggagcaggtagcagc c.-1
. . . . . . g.62016
ATGCAGCCGCCTCCAAGTCTGTGCGGACGCGCCCTGGTTGCGCTGGTTCTTGCCTGCGGC c.60
M Q P P P S L C G R A L V A L V L A C G p.20
. . . . . . g.62076
CTGTCGCGGATCTGGGGAGAGGAGAGAGGCTTCCCGCCTGACAGGGCCACTCCGCTTTTG c.120
L S R I W G E E R G F P P D R A T P L L p.40
. . . . . . g.62136
CAAACCGCAGAGATAATGACGCCACCCACTAAGACCTTATGGCCCAAGGGTTCCAACGCC c.180
Q T A E I M T P P T K T L W P K G S N A p.60
. . . . . . g.62196
AGTCTGGCGCGGTCGTTGGCACCTGCGGAGGTGCCTAAAGGAGACAGGACGGCAGGATCT c.240
S L A R S L A P A E V P K G D R T A G S p.80
. . . . . . g.62256
CCGCCACGCACCATCTCCCCTCCCCCGTGCCAAGGACCCATCGAGATCAAGGAGACTTTC c.300
P P R T I S P P P C Q G P I E I K E T F p.100
. . . . . . g.62316
AAATACATCAACACGGTTGTGTCCTGCCTTGTGTTCGTGCTGGGGATCATCGGGAACTCC c.360
K Y I N T V V S C L V F V L G I I G N S p.120
. . . . . . g.62376
ACACTTCTGAGAATTATCTACAAGAACAAGTGCATGCGAAACGGTCCCAATATCTTGATC c.420
T L L R I I Y K N K C M R N G P N I L I p.140
. . . . . . g.62436
GCCAGCTTGGCTCTGGGAGACCTGCTGCACATCGTCATTGACATCCCTATCAATGTCTAC c.480
A S L A L G D L L H I V I D I P I N V Y p.160
| 03 . . . . . . g.76979
AAG | CTGCTGGCAGAGGACTGGCCATTTGGAGCTGAGATGTGTAAGCTGGTGCCTTTCATA c.540
K | L L A E D W P F G A E M C K L V P F I p.180
. . . . . | 04 . g.77173
CAGAAAGCCTCTGTGGGAATCACTGTGCTGAGTCTATGTGCTCTGAGTATTGACAG | ATAT c.600
Q K A S V G I T V L S L C A L S I D R | Y p.200
. . . . . . g.77233
CGAGCTGTTGCTTCTTGGAGTAGAATTAAAGGAATTGGGGTTCCAAAATGGACAGCAGTA c.660
R A V A S W S R I K G I G V P K W T A V p.220
. . . . . . g.77293
GAAATTGTTTTGATTTGGGTGGTCTCTGTGGTTCTGGCTGTCCCTGAAGCCATAGGTTTT c.720
E I V L I W V V S V V L A V P E A I G F p.240
. . . . . . g.77353
GATATAATTACGATGGACTACAAAGGAAGTTATCTGCGAATCTGCTTGCTTCATCCCGTT c.780
D I I T M D Y K G S Y L R I C L L H P V p.260
. . | 05 . . . . g.79361
CAGAAGACAGCTTTCATGCAG | TTTTACAAGACAGCAAAAGATTGGTGGCTATTCAGTTTC c.840
Q K T A F M Q | F Y K T A K D W W L F S F p.280
. . . . . . g.79421
TATTTCTGCTTGCCATTGGCCATCACTGCATTTTTTTATACACTAATGACCTGTGAAATG c.900
Y F C L P L A I T A F F Y T L M T C E M p.300
. . . . . | 06 . g.79884
TTGAGAAAGAAAAGTGGCATGCAGATTGCTTTAAATGATCACCTAAAGCAG | AGACGGGAA c.960
L R K K S G M Q I A L N D H L K Q | R R E p.320
. . . . . . g.79944
GTGGCCAAAACCGTCTTTTGCCTGGTCCTTGTCTTTGCCCTCTGCTGGCTTCCCCTTCAC c.1020
V A K T V F C L V L V F A L C W L P L H p.340
. . . . . . g.80004
CTCAGCAGGATTCTGAAGCTCACTCTTTATAATCAGAATGATCCCAATAGATGTGAACTT c.1080
L S R I L K L T L Y N Q N D P N R C E L p.360
| 07 . . . . . . g.80617
TTGAG | CTTTCTGTTGGTATTGGACTATATTGGTATCAACATGGCTTCACTGAATTCCTGC c.1140
L S | F L L V L D Y I G I N M A S L N S C p.380
. . . . . | 08 . g.82201
ATTAACCCAATTGCTCTGTATTTGGTGAGCAAAAGATTCAAAAACTGCTTTAAG | TCATGC c.1200
I N P I A L Y L V S K R F K N C F K | S C p.400
. . . . . . g.82261
TTATGCTGCTGGTGCCAGTCATTTGAAGAAAAACAGTCCTTGGAGGAAAAGCAGTCGTGC c.1260
L C C W C Q S F E E K Q S L E E K Q S C p.420
. . . . . . g.82321
TTAAAGTTCAAAGCTAATGATCACGGATATGACAACTTCCGTTCCAGTAATAAATACAGC c.1320
L K F K A N D H G Y D N F R S S N K Y S p.440
g.82330
TCATCTTGA c.1329
S S X p.442
. . . . . . g.82390
aagaagaactattcactgtatttcattttctttatattggaccgaagtcattaaaacaaa c.*60
. . . . . . g.82450
atgaaacatttgccaaaacaaaacaaaaaactatgtatttgcacagcacactattaaaat c.*120
. . . . . . g.82510
attaagtgtaattattttaacactcacagctacatatgacattttatgagctgtttacgg c.*180
. . . . . . g.82570
catggaaagaaaatcagtgggaattaagaaagcctcgtcgtgaaagcacttaatttttta c.*240
. . . . . . g.82630
cagttagcacttcaacatagctcttaacaacttccaggatattcacacaacacttaggct c.*300
. . . . . . g.82690
taaaaatgagctcactcagaatttctattctttctaaaaagagatttatttttaaatcaa c.*360
. . . . . . g.82750
tgggactctgatataaaggaagaataagtcactgtaaaacagaacttttaaatgaagctt c.*420
. . . . . . g.82810
aaattactcaatttaaaattttaaaatcctttaaaacaacttttcaattaatattatcac c.*480
. . . . . . g.82870
actattatcagattgtaattagatgcaaatgagagagcagtttagttgttgcatttttcg c.*540
. . . . . . g.82930
gacactggaaacatttaaatgatcaggagggagtaacagaaagagcaaggctgtttttga c.*600
. . . . . . g.82990
aaatcattacactttcactagaagcccaaacctcagcattctgcaatatgtaaccaacat c.*660
. . . . . . g.83050
gtcacaaacaagcagcatgtaacagactggcacatgtgccagctgaatttaaaatataat c.*720
. . . . . . g.83110
acttttaaaaagaaaattattacatcctttacattcagttaagatcaaacctcacaaaga c.*780
. . . . . . g.83170
gaaatagaatgtttgaaaggctatcccaaaagacttttttgaatctgtcattcacatacc c.*840
. . . . . . g.83230
ctgtgaagacaatactatctacaattttttcaggattattaaaatcttcttctttcacta c.*900
. . . . . . g.83290
tcgtagcttaaactctgtttggttttgtcatctgtaaatacttacctacatacactgcat c.*960
. . . . . . g.83350
gtagatgattaaatgagggcaggccctgtgctcatagctttacgatggagagatgccagt c.*1020
. . . . . . g.83410
gacctcataataaagactgtgaactgcctggtgcagtgtccacatgacaaaggggcaggt c.*1080
. . . . . . g.83470
agcaccctctctcacccatgctgtggttaaaatggtttctagcatatgtataatgctata c.*1140
. . . . . . g.83530
gttaaaatactatttttcaaaatcatacagattagtacatttaacagctacctgtaaagc c.*1200
. . . . . . g.83590
ttattactaatttttgtattatttttgtaaatagccaatagaaaagtttgcttgacatgg c.*1260
. . . . . . g.83650
tgcttttctttcatctagaggcaaaactgctttttgagaccgtaagaacctcttagcttt c.*1320
. . . . . . g.83710
gtgcgttcctgcctaatttttatatcttctaagcaaagtgccttaggatagcttgggatg c.*1380
. . . . . . g.83770
agatgtgtgtgaaagtatgtacaagagaaaacggaagagagaggaaatgaggtggggttg c.*1440
. . . . . . g.83830
gaggaaacccatggggacagattcccattcttagcctaacgttcgtcattgcctcgtcac c.*1500
. . . . . . g.83890
atcaatgcaaaaggtcctgattttgttccagcaaaacacagtgcaatgttctcagagtga c.*1560
. . . . . . g.83950
ctttcgaaataaattgggcccaagagctttaactcggtcttaaaatatgcccaaattttt c.*1620
. . . . . . g.84010
actttgtttttcttttaataggctgggccacatgttggaaataagctagtaatgttgttt c.*1680
. . . . . . g.84070
tctgtcaatattgaatgtgatggtacagtaaaccaaaacccaacaatgtggccagaaaga c.*1740
. . . . . . g.84130
aagagcaataataattaattcacacaccatatggattctatttataaatcacccacaaac c.*1800
. . . . . . g.84190
ttgttctttaatttcatcccaatcactttttcagaggcctgttatcatagaagtcatttt c.*1860
. . . . . . g.84250
agactctcaattttaaattaattttgaatcactaatattttcacagtttattaatatatt c.*1920
. . . . . . g.84310
taatttctatttaaattttagattatttttattaccatgtactgaatttttacatcctga c.*1980
. . . . . . g.84370
taccttttccttctccatgtcagtatcatgttctctaattatcttgccaaattttgaaac c.*2040
. . . . . . g.84430
tacacacaaaaagcatacttgcattatttataataaaattgcattcagtggctttttaaa c.*2100
. . . . . . g.84490
aaaatgtttgattcaaaactttaacatactgataagtaagaaacaattataatttcttta c.*2160
. . . . . . g.84550
catactcaaaaccaagatagaaaaaggtgctatcgttcaacttcaaaacatgtttcctag c.*2220
. . . . . . g.84610
tattaaggactttaatatagcaacagacaaaattattgttaacatggatgttacagctca c.*2280
. . . . . . g.84670
aaagatttataaaagattttaacctattttctcccttattatccactgctaatgtggatg c.*2340
. . . . . . g.84730
tatgttcaaacaccttttagtattgatagcttacatatggccaaaggaatacagtttata c.*2400
. . . . . . g.84790
gcaaaacatgggtatgctgtagctaactttataaaagtgtaatataacaatgtaaaaaat c.*2460
. . . . . . g.84850
tatatatctgggaggattttttggttgcctaaagtggctatagttactgattttttatta c.*2520
. . . . . . g.84910
tgtaagcaaaaccaataaaaatttaagtttttttaacaactaccttatttttcactgtac c.*2580
. . . . . . g.84970
agacactaattcattaaatactaattgattgtttaaaagaaatataaatgtgacaagtgg c.*2640
. . . . . . g.85030
acattatttatgttaaatatacaattatcaagcaagtatgaagttattcaattaaaatgc c.*2700
. g.85049
cacatttctggtctctggg c.*2719
(downstream sequence)
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