Canonical Allele Identifier: CA1750841590

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571117_147571118delinsTC , CM000669.2:g.147571117_147571118delinsTC	GRCh38
NC_000007.13:g.147268209_147268210delinsTC , CM000669.1:g.147268209_147268210delinsTC	GRCh37
NC_000007.12:g.146899142_146899143delinsTC	NCBI36
NG_007092.2:g.1459757_1459758delinsTC
NG_007092.3:g.1460117_1460118delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8860_1897+8861delinsTC MANE Select	ENSP00000354778.3:n.1897+8860_1897+8861delinsTC
ENST00000636870.1:n.1759+8860_1759+8861delinsTC
ENST00000637825.1:n.1380+8860_1380+8861delinsTC
ENST00000638117.1:n.1800+8860_1800+8861delinsTC
ENST00000361727.7:c.1897+8860_1897+8861delinsTC	ENSP00000354778.3:n.1897+8860_1897+8861delinsTC
NM_014141.5:c.1897+8860_1897+8861delinsTC	NP_054860.1:n.1897+8860_1897+8861delinsTC
XM_006715919.1:c.385+8860_385+8861delinsTC	XP_006715982.1:n.385+8860_385+8861delinsTC
XM_017011950.2:c.1897+8860_1897+8861delinsTC	XP_016867439.1:n.1897+8860_1897+8861delinsTC
NM_014141.6:c.1897+8860_1897+8861delinsTC MANE Select	NP_054860.1:n.1897+8860_1897+8861delinsTC