Canonical Allele Identifier: CA2529773376
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132797_147132798del , CM000669.2:g.147132797_147132798del GRCh38
NC_000007.13:g.146829889_146829890del , CM000669.1:g.146829889_146829890del GRCh37
NC_000007.12:g.146460822_146460823del NCBI36
NG_007092.2:g.1021437_1021438del
NG_007092.3:g.1021797_1021798del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+288_1348+289del MANE Select ENSP00000354778.3:n.1348+288_1348+289del
ENST00000636561.1:n.1251+288_1251+289del
ENST00000636870.1:n.1210+288_1210+289del
ENST00000637150.1:n.1277+288_1277+289del
ENST00000637694.1:n.1251+288_1251+289del
ENST00000637825.1:n.831+288_831+289del
ENST00000638117.1:n.1251+288_1251+289del
ENST00000361727.7:c.1348+288_1348+289del ENSP00000354778.3:n.1348+288_1348+289del
NM_014141.5:c.1348+288_1348+289del NP_054860.1:n.1348+288_1348+289del
XM_017011950.2:c.1348+288_1348+289del XP_016867439.1:n.1348+288_1348+289del
NM_014141.6:c.1348+288_1348+289del MANE Select NP_054860.1:n.1348+288_1348+289del