Canonical Allele Identifier: CA1750624346

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132453_147132454delinsTG , CM000669.2:g.147132453_147132454delinsTG	GRCh38
NC_000007.13:g.146829545_146829546delinsTG , CM000669.1:g.146829545_146829546delinsTG	GRCh37
NC_000007.12:g.146460478_146460479delinsTG	NCBI36
NG_007092.2:g.1021093_1021094delinsTG
NG_007092.3:g.1021453_1021454delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1292_1293delinsTG MANE Select	ENSP00000354778.3:p.Val431=
ENST00000636561.1:n.1195_1196delinsTG
ENST00000636870.1:n.1154_1155delinsTG
ENST00000637150.1:n.1221_1222delinsTG
ENST00000637694.1:n.1195_1196delinsTG
ENST00000637825.1:n.775_776delinsTG
ENST00000638117.1:n.1195_1196delinsTG
ENST00000361727.7:c.1292_1293delinsTG	ENSP00000354778.3:p.Val431=
NM_014141.5:c.1292_1293delinsTG	NP_054860.1:p.Val431=
XM_017011950.2:c.1292_1293delinsTG	XP_016867439.1:p.Val431=
NM_014141.6:c.1292_1293delinsTG MANE Select	NP_054860.1:p.Val431=