(used for variant description)
(last modified March 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001399.4 in the EDA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009809.1, covering EDA transcript NM_001399.4.
(upstream sequence)
g.5002
at c.-241
. . . . . . g.5062
tccctcggcgggccgagcctcccctctctcccgcccctcctcctccctttcccacccctc c.-181
. . . . . . g.5122
ggagtagagctgcacatgcggctgctccctgctccgtcccgcccagccactgtcgcgcag c.-121
. . . . . . g.5182
gaacgggtccctgcagcccccagccgatggcaggacagtagccgcctgtcagaggtcgtg c.-61
. . . . . . g.5242
aacggctgaggcagacgcagcggctcccgggcctcaagagagtgggtgtctccggaggcc c.-1
. . . . . . g.5302
ATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGA c.60
M G Y P E V E R R E L L P A A A P R E R p.20
. . . . . . g.5362
GGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGC c.120
G S Q G C G C G G A P A R A G E G N S C p.40
. . . . . . g.5422
CTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGC c.180
L L F L G F F G L S L A L H L L T L C C p.60
. . . . . . g.5482
TACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGC c.240
Y L E L R S E L R R E R G A E S R L G G p.80
. . . . . . g.5542
TCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGC c.300
S G T P G T S G T L S S L G G L D P D S p.100
. . . . . . g.5602
CCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAA c.360
P I T S H L G Q P S P K Q Q P L E P G E p.120
. . . | 02 . . . g.345990
GCCGCACTCCACTCTGACTCCCAGGACGGGCACCAG | ATGGCCCTATTGAATTTCTTCTTC c.420
A A L H S D S Q D G H Q | M A L L N F F F p.140
. . . . . . g.346050
CCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGC c.480
P D E K P Y S E E E S R R V R R N K R S p.160
. . | 03 . . | 04 . . g.416810
AAAAGCAATGAAGGAGCAGATG | GCCCAGTTAAAAACAAGAAAAAGG | GAAAGAAAGCAGGA c.540
K S N E G A D G | P V K N K K K G | K K A G p.180
. . . . . . g.416870
CCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCA c.600
P P G P N G P P G P P G P P G P Q G P P p.200
. . . . . . g.416930
GGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCA c.660
G I P G I P G I P G T T V M G P P G P P p.220
. . . . | 05 . . g.418457
GGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTG | GTGCTGCTGATAAA c.720
G P P G P Q G P P G L Q G P S G | A A D K p.240
. . | 06 . . . . g.419447
GCTGGAACTCGAGAAAACCAG | CCAGCTGTGGTGCATCTACAGGGCCAAGGGTCAGCAATT c.780
A G T R E N Q | P A V V H L Q G Q G S A I p.260
. | 07 . . . . . g.422384
CAAGTCAAGAATG | ATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAAC c.840
Q V K N D | L S G G V L N D W S R I T M N p.280
. . . . . . g.422444
CCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACC c.900
P K V F K L H P R S G E L E V L V D G T p.300
. . | 08 . . . . g.424333
TACTTCATCTATAGTCAGGTAGAA | GTATACTACATCAACTTCACTGACTTTGCCAGCTAT c.960
Y F I Y S Q V E | V Y Y I N F T D F A S Y p.320
. . . . . . g.424393
GAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAG c.1020
E V V V D E K P F L Q C T R S I E T G K p.340
. . . . . . g.424453
ACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATC c.1080
T N Y N T C Y T A G V C L L K A R Q K I p.360
. . . . . . g.424513
GCCGTCAAGATGGTGCACGCTGACATCTCCATCAACATGAGCAAGCACACCACGTTCTTT c.1140
A V K M V H A D I S I N M S K H T T F F p.380
. . . g.424549
GGGGCCATCAGGCTGGGTGAAGCCCCTGCATCCTAG c.1176
G A I R L G E A P A S X p.391
. . . . . . g.424609
attccccccattttgcctctgtccgtgccccttccctgggtttgggagccaggactccca c.*60
. . . . . . g.424669
gaacctctaagtgctgctgtggagtgaggtgtattggtgttgcagccgcagagaaatgcc c.*120
. . . . . . g.424729
ccagtgttatttattccccagtgactccagggtgacaaggcctgcttgactttccagaat c.*180
. . . . . . g.424789
gaccttgagttaacaggacagttgatggagccccagggtttacatgaagcagaaccttct c.*240
. . . . . . g.424849
ttggttccatgttgactgacttatggcatgactcttcaaccccgaggtccctgttgtcag c.*300
. . . . . . g.424909
atctattgtttgttgcactaaaatgaggatccagggcagcaggccagagaaagcaaaggt c.*360
. . . . . . g.424969
gcactccagactctgggggtggacatctgaccccaagggggctgctgctcctctcttggg c.*420
. . . . . . g.425029
tagggtagtggctggggtggagtgggaagggagcattgcagcctaagaagaaggccagag c.*480
. . . . . . g.425089
agggaaaaggcaggtgcttttggcagagaccataagagaaacctgccaaggagcatcctt c.*540
. . . . . . g.425149
ggcagtgggaatgttctttctgctctatactgtggcctgcaggagggttggagtgctctt c.*600
. . . . . . g.425209
cccactccagctgacagccacaccgtggcagcttgctgggctttgggaagtttgctgtgc c.*660
. . . . . . g.425269
tttggaacaatcacagggaatggccacaaacctgcccgcctaagaccctgaatccgtact c.*720
. . . . . . g.425329
tgggtcacatgactctcattttatttacagctgtgctccacactcagaaaattccctggg c.*780
. . . . . . g.425389
gtcaccttctagttgcccccattcccagcctgactagaactcctgtcttctttctccatg c.*840
. . . . . . g.425449
gagcctacctctgtctgagacaggtgcctaacctgggacctgtggtcatgtgagtctggg c.*900
. . . . . . g.425509
atattctttagcttacctgggcacaaacagaattttccatttattaagcagtacaaatgt c.*960
. . . . . . g.425569
ttttcatccattcctaatcaaattctgtctggggacgaagggttggacgggatgacctcc c.*1020
. . . . . . g.425629
agaagtcccttcaatttctagtacctgtgactcttagccctcaccacagccttctaaatt c.*1080
. . . . . . g.425689
cccaaatcctagactgctcctgggcattagcaaggcagagcctttttacctggcctagaa c.*1140
. . . . . . g.425749
agggcaaggggtgaggataggacagagggattttgttcaagtttgctgcaacccaagtgg c.*1200
. . . . . . g.425809
acgttaggccaggccttatctgaaaggccagcagctgatgctgtactaacccagtctttc c.*1260
. . . . . . g.425869
ttcactctggcttcaaaaagccacagcagagcattgtcaccgcaggtgctcatgctgctc c.*1320
. . . . . . g.425929
ccctaaagccaggctcaggagaagccagtgtctaggcactgagcagggatctgcccccta c.*1380
. . . . . . g.425989
gttcaggtccaaattcaccttcccctaaaccccaagcttcccaacagatcatatggtagg c.*1440
. . . . . . g.426049
accctcgagagccttacttcaaagtgcctgggctcagcctggtttctgggtgctagatcc c.*1500
. . . . . . g.426109
agcccaaacctgggaaggccagccttgtacagtctgctcctcttgttcctgaaatgtgtt c.*1560
. . . . . . g.426169
tccttttcaggagatggggaataatttccttcaggcagctgaaattcaccaagaacagcg c.*1620
. . . . . . g.426229
ggtacttatttctcagctgtgccttccctttctaagcaaccacactgcttggcccttcaa c.*1680
. . . . . . g.426289
gggtcagggtgagacgtgatgggctaggcctccgttgtctggttgctaatgacagccttg c.*1740
. . . . . . g.426349
caacccaaggtgaggtgaactccaggcatgtgtctggccctaactcctataaagtgcctc c.*1800
. . . . . . g.426409
ggacagtccgcagttgtagcagaaaccaacaagaaccactccttcatgtttggaaaataa c.*1860
. . . . . . g.426469
tttctcttgtattatctcctttgaagaaggcaaggctgataatatgacaaacatcattgt c.*1920
. . . . . . g.426529
ttagatgaggctcagagaggtagcactctcagagtgttttgaccagtttaagccgcagac c.*1980
. . . . . . g.426589
ctggagcttcagccaggtctgactccaaagctgttccattacaccacagcattgtgtgga c.*2040
. . . . . . g.426649
atttgaggtctagagagaaccaataaaagtggtaattgggaactgaaatccttgagagtt c.*2100
. . . . . . g.426709
ccggggagaaacccagagatgcctgatttcattcctcgatggtaatacccgtcctctcgg c.*2160
. . . . . . g.426769
ctgccaggggctctgtggcaaaaagagtcagacatttctttggaaaacagcgaacagcct c.*2220
. . . . . . g.426829
tagagctcttgtgttcagaagaatcttcctggcacaatgttggagcagcaggcctctggg c.*2280
. . . . . . g.426889
acccacagaacttgtggcctttatgttctttcacccatcctaggaaccagccaaccatca c.*2340
. . . . . . g.426949
tgtgtagagcccctactgtgggcaaagtcctcctttcattaccctacagacagcttacag c.*2400
. . . . . . g.427009
gagccagcctgcttcccacaactactagtgtgactccttatctctttccaccatacctta c.*2460
. . . . . . g.427069
gagactttgatactaccagggtctctcagggatggagggaagacctgaaagagaggactg c.*2520
. . . . . . g.427129
gttctgaggccagaaaggtgtgaggagagaggaggaaaagtcttcctaattgtgccccta c.*2580
. . . . . . g.427189
aagagcatcctgataccattctattctccagacatggaggggatgataaaggaaatagga c.*2640
. . . . . . g.427249
tctccactggacccttgattcattctgaaccctccaaaggaactctagagggcgagggat c.*2700
. . . . . . g.427309
gatgagggaagcaataggtagctggggagccctattgctgctaagtcattggcaaagtga c.*2760
. . . . . . g.427369
caaagcaatttactgatgagagaatgtggaaatagatgtgcagtttggaattatgttggt c.*2820
. . . . . . g.427429
gtgaatttgccagaggaccaatgcttgcatggagaatgggacgaggacatttgtgggcaa c.*2880
. . . . . . g.427489
gcagatgacagaggtttgaaggagaatggcatggcaggagtctctgccagttacttgggc c.*2940
. . . . . . g.427549
ttcaacagccaagctggcacaaaagacagctggcggaggctgctcggctactggttacct c.*3000
. . . . . . g.427609
ggagaagtagtatttgcctatttcccccttcatccatcctgagccaaatttcttttgctg c.*3060
. . . . . . g.427669
aacaggaaagagctaggaaccctggaggtaaacaaagactttgatccatgtatgagtgta c.*3120
. . . . . . g.427729
tgtgtttatgtaacttcctgtggatgcaaatagattcagagaaatttagagctaaaaagg c.*3180
. . . . . . g.427789
cccttagagggaatctagcccaacctacattccaccctgttacttatgtagaaactgagg c.*3240
. . . . . . g.427849
cccagagagggaagatgacctgccccaagtggtgagcaagcaccaacctccagactcagc c.*3300
. . . . . . g.427909
agagtgagggggtaaagcagttcctgtcccacatggccatcttctttcttccacccacaa c.*3360
. . . . . . g.427969
actccaggctggaagtacttggcccccttcaggagcctggccaggcagggagagagtagc c.*3420
. . . . . . g.428029
tgcagccttcatcagaactcttcctcctcccaaggcattctcccagctctagcctctgga c.*3480
. . . . . . g.428089
ctggaaagcacaagactggcccagtgccagcaagtccttaggctactgtaatgctgcctc c.*3540
. . . . . . g.428149
aggacccatccctgcctggaggctcctctaggccctgtgagcacaaagaagaaagctgat c.*3600
. . . . . . g.428209
ttttgtcttttaatccatttcaggactctctccaggagggctcggggtgtgtcatttcta c.*3660
. . . . . . g.428269
tattcctccagctgggattggggggtgggctttgttgtgagaatggcctggagcaggccc c.*3720
. . . . . . g.428329
aatgctgcttttgggggtcagcatccagtgtgagatactgtgtatataaactatatataa c.*3780
. . . . . . g.428389
tgtatataaactgggatgtaagtttgtgtaaattaatggtttattctttgcaaataaaac c.*3840
. . g.428412
gctttccccgtctgttcttgaaa c.*3863
(downstream sequence)
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