Canonical Allele Identifier: CA1750619766

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132544_147132546delinsCTT , CM000669.2:g.147132544_147132546delinsCTT	GRCh38
NC_000007.13:g.146829636_146829638delinsCTT , CM000669.1:g.146829636_146829638delinsCTT	GRCh37
NC_000007.12:g.146460569_146460571delinsCTT	NCBI36
NG_007092.2:g.1021184_1021186delinsCTT
NG_007092.3:g.1021544_1021546delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+35_1348+37delinsCTT MANE Select	ENSP00000354778.3:n.1348+35_1348+37delinsCTT
ENST00000636561.1:n.1251+35_1251+37delinsCTT
ENST00000636870.1:n.1210+35_1210+37delinsCTT
ENST00000637150.1:n.1277+35_1277+37delinsCTT
ENST00000637694.1:n.1251+35_1251+37delinsCTT
ENST00000637825.1:n.831+35_831+37delinsCTT
ENST00000638117.1:n.1251+35_1251+37delinsCTT
ENST00000361727.7:c.1348+35_1348+37delinsCTT	ENSP00000354778.3:n.1348+35_1348+37delinsCTT
NM_014141.5:c.1348+35_1348+37delinsCTT	NP_054860.1:n.1348+35_1348+37delinsCTT
XM_017011950.2:c.1348+35_1348+37delinsCTT	XP_016867439.1:n.1348+35_1348+37delinsCTT
NM_014141.6:c.1348+35_1348+37delinsCTT MANE Select	NP_054860.1:n.1348+35_1348+37delinsCTT