Canonical Allele Identifier: CA1750805243

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491628_147491629delinsAC , CM000669.2:g.147491628_147491629delinsAC	GRCh38
NC_000007.13:g.147188720_147188721delinsAC , CM000669.1:g.147188720_147188721delinsAC	GRCh37
NC_000007.12:g.146819653_146819654delinsAC	NCBI36
NG_007092.2:g.1380268_1380269delinsAC
NG_007092.3:g.1380628_1380629delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+5587_1777+5588delinsAC MANE Select	ENSP00000354778.3:n.1777+5587_1777+5588delinsAC
ENST00000636870.1:n.1639+5587_1639+5588delinsAC
ENST00000637694.1:n.1681-4993_1681-4992delinsAC
ENST00000637825.1:n.1260+5587_1260+5588delinsAC
ENST00000638117.1:n.1680+5587_1680+5588delinsAC
ENST00000361727.7:c.1777+5587_1777+5588delinsAC	ENSP00000354778.3:n.1777+5587_1777+5588delinsAC
NM_014141.5:c.1777+5587_1777+5588delinsAC	NP_054860.1:n.1777+5587_1777+5588delinsAC
XM_006715919.1:c.265+5587_265+5588delinsAC	XP_006715982.1:n.265+5587_265+5588delinsAC
XM_017011950.2:c.1777+5587_1777+5588delinsAC	XP_016867439.1:n.1777+5587_1777+5588delinsAC
NM_014141.6:c.1777+5587_1777+5588delinsAC MANE Select	NP_054860.1:n.1777+5587_1777+5588delinsAC