Canonical Allele Identifier: CA1750619752
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132524_147132527delinsTTTG , CM000669.2:g.147132524_147132527delinsTTTG GRCh38
NC_000007.13:g.146829616_146829619delinsTTTG , CM000669.1:g.146829616_146829619delinsTTTG GRCh37
NC_000007.12:g.146460549_146460552delinsTTTG NCBI36
NG_007092.2:g.1021164_1021167delinsTTTG
NG_007092.3:g.1021524_1021527delinsTTTG

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1348+15_1348+18delinsTTTG MANE Select ENSP00000354778.3:n.1348+15_1348+18delins...
ENST00000636561.1:n.1251+15_1251+18delinsTTTG
ENST00000636870.1:n.1210+15_1210+18delinsTTTG
ENST00000637150.1:n.1277+15_1277+18delinsTTTG
ENST00000637694.1:n.1251+15_1251+18delinsTTTG
ENST00000637825.1:n.831+15_831+18delinsTTTG
ENST00000638117.1:n.1251+15_1251+18delinsTTTG
ENST00000361727.7:c.1348+15_1348+18delinsTTTG ENSP00000354778.3:n.1348+15_1348+18delins...
NM_014141.5:c.1348+15_1348+18delinsTTTG NP_054860.1:n.1348+15_1348+18delinsTTTG
XM_017011950.2:c.1348+15_1348+18delinsTTTG XP_016867439.1:n.1348+15_1348+18delinsTTT...
NM_014141.6:c.1348+15_1348+18delinsTTTG MANE Select NP_054860.1:n.1348+15_1348+18delinsTTTG
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