(used for variant description)
(last modified January 24, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_022336.3 in the EDAR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008257.1, covering EDAR transcript NM_022336.3.
(upstream sequence)
. g.5011
ggggcagacgg c.-421
. . . . . . g.5071
ccggagagccaggtgtgccagggacctatggcagcagggctgaacgtgcccgctccagcc c.-361
. . . . . . g.5131
tctccagtgctgggagagacctctagatggtgcaggtgagtttgcaatgagggaaagccc c.-301
. . . . . . g.5191
ctcggcaaggactgagtttccaaacttgcagacagggcagggagcggtcaaggaagagtt c.-241
. . . . . . g.5251
cccgggaagccctttaaacggaaaggaagcggggctagtgtcagagaggtgtgccaggtc c.-181
. . . . . . g.5311
ccaggcagccctgctggcccctaaggacatagagtacctgcttctgagagggctgccacg c.-121
. . . . . . g.5371
gtggccacctgtgaagcctgtcacccagaactggatggtacctgactttcttcatagacc c.-61
. . . . . | 02 . g.63358
catcttctgctgggactgaagctgacctccaacagaagccag | gtgagcccttgggagagg c.-1
. . . . . | 03 . g.64139
ATGGCCCATGTGGGGGACTGCACGCAGACGCCCTGGCTCCCCGTCCTGGTG | GTGTCTCTG c.60
M A H V G D C T Q T P W L P V L V | V S L p.20
. . . . . . g.64199
ATGTGCTCAGCCCGAGCGGAATACTCAAACTGCGGTGAGAACGAGTACTACAACCAGACT c.120
M C S A R A E Y S N C G E N E Y Y N Q T p.40
. . . . . | 04 . g.64999
ACGGGGCTGTGCCAGGAGTGCCCCCCGTGTGGGCCGGGAGAGGAGCCCTACCTG | TCCTGT c.180
T G L C Q E C P P C G P G E E P Y L | S C p.60
. . . . . . g.65059
GGCTACGGCACCAAAGACGAGGACTACGGCTGCGTCCCCTGCCCGGCGGAGAAGTTTTCC c.240
G Y G T K D E D Y G C V P C P A E K F S p.80
. . . . . . g.65119
AAAGGAGGCTACCAGATATGCAGGCGTCACAAAGACTGTGAGGGCTTCTTCCGGGCCACC c.300
K G G Y Q I C R R H K D C E G F F R A T p.100
. . . . . | 05 . g.70923
GTGCTGACACCAGGGGACATGGAGAATGACGCTGAGTGTGGCCCTTGCCTCCCTGG | CTAC c.360
V L T P G D M E N D A E C G P C L P G | Y p.120
. . . . . . g.70983
TACATGCTGGAGAACAGACCGAGGAACATCTATGGCATGGTCTGCTACTCCTGCCTCCTG c.420
Y M L E N R P R N I Y G M V C Y S C L L p.140
. . | 06 . . . . g.81646
GCACCCCCCAACACCAAGGAAT | GTGTGGGAGCCACTTCAGGAGCTTCTGCCAACTTCCCT c.480
A P P N T K E C | V G A T S G A S A N F P p.160
. . . . | 07 . g.83311
GGCACCTCGGGCAGCAGCACCCTGTCTCCCTTCCAGCACGCCCACAAAG | AACTCTCAGGC c.540
G T S G S S T L S P F Q H A H K E | L S G p.180
. . . . . . g.83371
CAAGGACACCTGGCCACTGCCCTGATCATTGCAATGTCCACCATCTTCATCATGGCCATC c.600
Q G H L A T A L I I A M S T I F I M A I p.200
. . . . . | 08 . g.83527
GCCATCGTCCTCATCATCATGTTCTACATCCTGAAGACAAAGCCCTCTGCCCCAG | CCTGT c.660
A I V L I I M F Y I L K T K P S A P A | C p.220
. . . . . . g.83587
TGCACCAGCCACCCGGGGAAGAGCGTGGAGGCCCAAGTGAGCAAGGACGAGGAGAAGAAA c.720
C T S H P G K S V E A Q V S K D E E K K p.240
. | 09 . . . . . g.83890
GAGGCCCCAG | ACAACGTGGTGATGTTCTCCGAGAAGGATGAATTTGAGAAGCTGACAGCA c.780
E A P D | N V V M F S E K D E F E K L T A p.260
. . | 10 . . . . g.86390
ACTCCAGCAAAGCCCACCAAGAG | CGAGAACGATGCCTCATCCGAGAATGAGCAGCTGCTG c.840
T P A K P T K S | E N D A S S E N E Q L L p.280
. . . . . . g.86450
AGCCGGAGCGTCGACAGTGATGAGGAGCCCGCCCCTGACAAGCAGGGCTCCCCGGAGCTG c.900
S R S V D S D E E P A P D K Q G S P E L p.300
. . . . . . g.86510
TGCCTGCTGTCGCTGGTTCACCTGGCCAGGGAGAAGTCTGCCACCAGCAACAAGTCAGCC c.960
C L L S L V H L A R E K S A T S N K S A p.320
| 11 . . . . . . g.88061
GGG | ATTCAAAGCCGGAGGAAAAAGATCCTCGATGTGTATGCCAACGTGTGTGGAGTCGTG c.1020
G | I Q S R R K K I L D V Y A N V C G V V p.340
| 12 . . . . . . g.97199
GAAG | GTCTTAGCCCCACGGAGCTGCCATTTGATTGCCTCGAGAAGACTAGCCGAATGCTC c.1080
E G | L S P T E L P F D C L E K T S R M L p.360
. . . . . . g.97259
AGCTCCACGTACAACTCTGAGAAGGCTGTTGTGAAAACGTGGCGCCACCTCGCCGAGAGC c.1140
S S T Y N S E K A V V K T W R H L A E S p.380
. . . . . . g.97319
TTCGGCCTGAAGAGGGATGAGATTGGGGGCATGACAGACGGCATGCAACTCTTTGACCGC c.1200
F G L K R D E I G G M T D G M Q L F D R p.400
. . . . . . g.97379
ATCAGCACGGCAGGCTACAGCATCCCTGAGCTACTCACAAAACTGGTGCAGATTGAGCGG c.1260
I S T A G Y S I P E L L T K L V Q I E R p.420
. . . . . . g.97439
CTGGATGCTGTGGAGTCCTTGTGTGCAGACATACTGGAGTGGGCGGGGGTTGTGCCACCT c.1320
L D A V E S L C A D I L E W A G V V P P p.440
. . g.97466
GCCTCCCAGCCACATGCTGCATCCTGA c.1347
A S Q P H A A S X p.448
. . . . . . g.97526
aaagcatgcctgtgggctgtcctcccaggacaagccaaggagccaacgagggctctggag c.*60
. . . . . . g.97586
ctgtgagtggtgccaaaagactgccaagaatcaaggcttttgtgatatgtcaccgtatgc c.*120
. . . . . . g.97646
cttaggatgttcaaggagccagacgaaataaggcctgtcttccaatttaaccaaagataa c.*180
. . . . . . g.97706
aggactagagccgggatactttcagatgctcgcctgtacctcaccaggcagagtaaatat c.*240
. . . . . . g.97766
ctactcactcatacagccagcccaccagcccaccattaactcactgaacaatgagacaat c.*300
. . . . . . g.97826
gttgaggactcaaatgaatcaaaccccgtgggaatgacagaagtgaagaatctggtccct c.*360
. . . . . . g.97886
gtctttaaggagtttgcactccagtagaagacagaaggaacgtatgtttacaaaccactt c.*420
. . . . . . g.97946
cactggaagacgtcaaacaagctgaatgaaggggcgcttagaaaacgttaatagaagttc c.*480
. . . . . . g.98006
taagcgggagatgactccctactgggatgatgaaggatggcatcctagtgaagaagcagc c.*540
. . . . . . g.98066
tcaaacattttgataaaatggcaacaaaatgcagacaccctgctccaggtattatttcag c.*600
. . . . . . g.98126
gtttagtacaagtctgttaataccctatgtggtttcattaggataactttttacctatcc c.*660
. . . . . . g.98186
ttgaggtcatccatattcttacaggccttccagtcaataatggaagagctcactctatac c.*720
. . . . . . g.98246
aaaaccaatatgcaaggcatgtgtttgtccaagcaattggatgtgtgcagtagccaattt c.*780
. . . . . . g.98306
catttactgcattactctttggcctgggaaccctgtggtctgcactacatgtgaatggcc c.*840
. . . . . . g.98366
ttccacttcagtcttaggcagatttgaccttttaggggcagcaatgctgaaggacacagc c.*900
. . . . . . g.98426
aatttaaattataatgtgtcaggctgtgttttcacttcaaacatgtatgagtagtcagct c.*960
. . . . . . g.98486
gtaattagagaaatgatgacttcctaagagttcagccacgcataattctagatttcaaga c.*1020
. . . . . . g.98546
gcatctaagacttgtggattagcctcatggcatgagagtttcagactcagccttctgagc c.*1080
. . . . . . g.98606
cagtcagggaaagtggagttctgcagcgcaaatgagagcctgggcttgatgtcgagggag c.*1140
. . . . . . g.98666
ctggcttctagttgtgccaccttgggccttgtcttttcctctctctgcctcagtttctcg c.*1200
. . . . . . g.98726
tctgccaatgagatgttagttagtgattctataattggggcaggtagggttcaggtgagc c.*1260
. . . . . . g.98786
aaaaagaaagtggagctataggaaatgccaggcctttgaggtgctctatggaagtcaaca c.*1320
. . . . . . g.98846
cagtgtggtttgtccatttaaatgggaataaaaacagaaaaactcagacttggcattttc c.*1380
. . . . . . g.98906
acaataactgcaatggtttgacataacatttataggcagaaagttaataaactggcattg c.*1440
. . . . . . g.98966
ttcttggcatattattgtactatccctgtaactgccaagagctcaggagccaggctagtg c.*1500
. . . . . . g.99026
atcacaccaggggttagagttcactgctgaactccctgatggcaggtctgtgtttattac c.*1560
. . . . . . g.99086
tacattaaaacaaagtctctgacttataaagcgaggttgtaaaaattacaagttgcatga c.*1620
. . . . . . g.99146
ctgaaaaaatgctttagggggaaaatcagtcatatctttaacaccaacaagcaatttccc c.*1680
. . . . . . g.99206
accaacgaatgtagtacatactgtgagaggatcataatgaggtcctgaatatttaatatc c.*1740
. . . . . . g.99266
atcatttactgtgtctgtttgctgctgtttttcgaacctatttggtttaccctgcaagct c.*1800
. . . . . . g.99326
aaatactccacggcagagcttaattatccttttaattcctctttgaaatcctgtggtgcc c.*1860
. . . . . . g.99386
cccttccccctgccttgtgatgatgatgagtgagtctccccttaattagactgcaaatgt c.*1920
. . . . . . g.99446
cacttgtgatgagtgtgccattccaggataacagcttgcaccctcctcagaatgttttca c.*1980
. . . . . . g.99506
gcgaaagagtggggtggctgttctctgctcctggtgctttggcctcatttcacactatta c.*2040
. . . . . . g.99566
gaattctggggctgtaaggccagccagtgtcagctcatgttccattggctctccacctgc c.*2100
. . . . . . g.99626
catttttagggagctattccttatatagttacaaattcccttgtcatttacttatttgga c.*2160
. . . . . . g.99686
aacatgggatttactctgacaagctttagcctatgttatgggattcagaacaatgagatc c.*2220
. . . . . . g.99746
ataataattctcactgaccaaagctgggactccatcctgccatttttgtgtggagatatt c.*2280
. . . . . . g.99806
cataattctgcaatactttaaaacatttagaaaacaccccagggtaggtctgtggccctt c.*2340
. . . . . . g.99866
agacagtgaagtcttaattgtcaatattatttttgtctaattctgtatatatataactta c.*2400
. . . g.99902
ttatattttataatctcaataaacacattaataaga c.*2436
(downstream sequence)
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