Canonical Allele Identifier: CA1750805283

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491691_147491692delinsGT , CM000669.2:g.147491691_147491692delinsGT	GRCh38
NC_000007.13:g.147188783_147188784delinsGT , CM000669.1:g.147188783_147188784delinsGT	GRCh37
NC_000007.12:g.146819716_146819717delinsGT	NCBI36
NG_007092.2:g.1380331_1380332delinsGT
NG_007092.3:g.1380691_1380692delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+5650_1777+5651delinsGT MANE Select	ENSP00000354778.3:n.1777+5650_1777+5651delinsGT
ENST00000636870.1:n.1639+5650_1639+5651delinsGT
ENST00000637694.1:n.1681-4930_1681-4929delinsGT
ENST00000637825.1:n.1260+5650_1260+5651delinsGT
ENST00000638117.1:n.1680+5650_1680+5651delinsGT
ENST00000361727.7:c.1777+5650_1777+5651delinsGT	ENSP00000354778.3:n.1777+5650_1777+5651delinsGT
NM_014141.5:c.1777+5650_1777+5651delinsGT	NP_054860.1:n.1777+5650_1777+5651delinsGT
XM_006715919.1:c.265+5650_265+5651delinsGT	XP_006715982.1:n.265+5650_265+5651delinsGT
XM_017011950.2:c.1777+5650_1777+5651delinsGT	XP_016867439.1:n.1777+5650_1777+5651delinsGT
NM_014141.6:c.1777+5650_1777+5651delinsGT MANE Select	NP_054860.1:n.1777+5650_1777+5651delinsGT