(used for variant description)
(last modified July 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_020661.2 in the AICDA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011588.1, covering AICDA transcript NM_020661.2.
(upstream sequence)
. g.5019
agagaaccatcattaattg c.-61
. . . . . . g.5079
aagtgagatttttctggcctgagacttgcagggaggcaagaagacactctggacaccact c.-1
| 02 . . . . . g.10886
ATGGACAG | CCTCTTGATGAACCGGAGGAAGTTTCTTTACCAATTCAAAAATGTCCGCTGG c.60
M D S | L L M N R R K F L Y Q F K N V R W p.20
. . . . . . g.10946
GCTAAGGGTCGGCGTGAGACCTACCTGTGCTACGTAGTGAAGAGGCGTGACAGTGCTACA c.120
A K G R R E T Y L C Y V V K R R D S A T p.40
. . . | 03 . . . g.12385
TCCTTTTCACTGGACTTTGGTTATCTTCGCAATAAG | AACGGCTGCCACGTGGAATTGCTC c.180
S F S L D F G Y L R N K | N G C H V E L L p.60
. . . . . . g.12445
TTCCTCCGCTACATCTCGGACTGGGACCTAGACCCTGGCCGCTGCTACCGCGTCACCTGG c.240
F L R Y I S D W D L D P G R C Y R V T W p.80
. . . . . . g.12505
TTCACCTCCTGGAGCCCCTGCTACGACTGTGCCCGACATGTGGCCGACTTTCTGCGAGGG c.300
F T S W S P C Y D C A R H V A D F L R G p.100
. . . . . . g.12565
AACCCCAACCTCAGTCTGAGGATCTTCACCGCGCGCCTCTACTTCTGTGAGGACCGCAAG c.360
N P N L S L R I F T A R L Y F C E D R K p.120
. . . . . . g.12625
GCTGAGCCCGAGGGGCTGCGGCGGCTGCACCGCGCCGGGGTGCAAATAGCCATCATGACC c.420
A E P E G L R R L H R A G V Q I A I M T p.140
| 04. . . . . . g.12977
TTCAAAG | ATTATTTTTACTGCTGGAATACTTTTGTAGAAAACCACGAAAGAACTTTCAAA c.480
F K D | Y F Y C W N T F V E N H E R T F K p.160
. . . . . . g.13037
GCCTGGGAAGGGCTGCATGAAAATTCAGTTCGTCTCTCCAGACAGCTTCGGCGCATCCTT c.540
A W E G L H E N S V R L S R Q L R R I L p.180
| 05 . . . . . g.13566
TTG | CCCCTGTATGAGGTTGATGACTTACGAGACGCATTTCGTACTTTGGGACTTTGA c.597
L | P L Y E V D D L R D A F R T L G L X p.198
. . . . . . g.13626
tagcaacttccaggaatgtcacacacgatgaaatatctctgctgaagacagtggataaaa c.*60
. . . . . . g.13686
aacagtccttcaagtcttctctgtttttattcttcaactctcactttcttagagtttaca c.*120
. . . . . . g.13746
gaaaaaatatttatatacgactctttaaaaagatctatgtcttgaaaatagagaaggaac c.*180
. . . . . . g.13806
acaggtctggccagggacgtgctgcaattggtgcagttttgaatgcaacattgtccccta c.*240
. . . . . . g.13866
ctgggaataacagaactgcaggacctgggagcatcctaaagtgtcaacgtttttctatga c.*300
. . . . . . g.13926
cttttaggtaggatgagagcagaaggtagatcctaaaaagcatggtgagaggatcaaatg c.*360
. . . . . . g.13986
tttttatatcaacatcctttattatttgattcatttgagttaacagtggtgttagtgata c.*420
. . . . . . g.14046
gatttttctattcttttcccttgacgtttactttcaagtaacacaaactcttccatcagg c.*480
. . . . . . g.14106
ccatgatctataggacctcctaatgagagtatctgggtgattgtgaccccaaaccatctc c.*540
. . . . . . g.14166
tccaaagcattaatatccaatcatgcgctgtatgttttaatcagcagaagcatgttttta c.*600
. . . . . . g.14226
tgtttgtacaaaagaagattgttatgggtggggatggaggtatagaccatgcatggtcac c.*660
. . . . . . g.14286
cttcaagctactttaataaaggatcttaaaatgggcaggaggactgtgaacaagacaccc c.*720
. . . . . . g.14346
taataatgggttgatgtctgaagtagcaaatcttctggaaacgcaaactcttttaaggaa c.*780
. . . . . . g.14406
gtccctaatttagaaacacccacaaacttcacatatcataattagcaaacaattggaagg c.*840
. . . . . . g.14466
aagttgcttgaatgttggggagaggaaaatctattggctctcgtgggtctcttcatctca c.*900
. . . . . . g.14526
gaaatgccaatcaggtcaaggtttgctacattttgtatgtgtgtgatgcttctcccaaag c.*960
. . . . . . g.14586
gtatattaactatataagagagttgtgacaaaacagaatgataaagctgcgaaccgtggc c.*1020
. . . . . . g.14646
acacgctcatagttctagctgcttgggaggttgaggagggaggatggcttgaacacaggt c.*1080
. . . . . . g.14706
gttcaaggccagcctgggcaacataacaagatcctgtctctcaaaaaaaaaaaaaaaaaa c.*1140
. . . . . . g.14766
aagaaagagagagggccgggcgtggtggctcacgcctgtaatcccagcactttgggaggc c.*1200
. . . . . . g.14826
cgagccgggcggatcacctgtggtcaggagtttgagaccagcctggccaacatggcaaaa c.*1260
. . . . . . g.14886
ccccgtctgtactcaaaatgcaaaaattagccaggcgtggtagcaggcacctgtaatccc c.*1320
. . . . . . g.14946
agctacttgggaggctgaggcaggagaatcgcttgaacccaggaggtggaggttgcagta c.*1380
. . . . . . g.15006
agctgagatcgtgccgttgcactccagcctgggcgacaagagcaagactctgtctcagaa c.*1440
. . . . . . g.15066
aaaaaaaaaaaaaagagagagagagagaaagagaacaatatttgggagagaaggatgggg c.*1500
. . . . . . g.15126
aagcattgcaaggaaattgtgctttatccaacaaaatgtaaggagccaataagggatccc c.*1560
. . . . . . g.15186
tatttgtctcttttggtgtctatttgtccctaacaactgtctttgacagtgagaaaaata c.*1620
. . . . . . g.15246
ttcagaataaccatatccctgtgccgttattacctagcaacccttgcaatgaagatgagc c.*1680
. . . . . . g.15306
agatccacaggaaaacttgaatgcacaactgtcttattttaatcttattgtacataagtt c.*1740
. . . . . . g.15366
tgtaaaagagttaaaaattgttacttcatgtattcatttatattttatattattttgcgt c.*1800
. . . . . . g.15426
ctaatgattttttattaacatgatttccttttctgatatattgaaatggagtctcaaagc c.*1860
. . . . . . g.15486
ttcataaatttataactttagaaatgattctaataacaacgtatgtaattgtaacattgc c.*1920
. . . . . . g.15546
agtaatggtgctacgaagccatttctcttgatttttagtaaacttttatgacagcaaatt c.*1980
. . . . . . g.15606
tgcttctggctcactttcaatcagttaaataaatgataaataattttggaagctgtgaag c.*2040
. . . . . . g.15666
ataaaataccaaataaaataatataaaagtgatttatatgaagttaaaataaaaaatcag c.*2100
. g.15684
tatgatggaataaacttg c.*2118
(downstream sequence)
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