Canonical Allele Identifier: CA2543267515

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571123_147571124insAAT , CM000669.2:g.147571123_147571124insAAT	GRCh38
NC_000007.13:g.147268215_147268216insAAT , CM000669.1:g.147268215_147268216insAAT	GRCh37
NC_000007.12:g.146899148_146899149insAAT	NCBI36
NG_007092.2:g.1459763_1459764insAAT
NG_007092.3:g.1460123_1460124insAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8866_1897+8867insAAT MANE Select	ENSP00000354778.3:n.1897+8866_1897+8867insAAT
ENST00000636870.1:n.1759+8866_1759+8867insAAT
ENST00000637825.1:n.1380+8866_1380+8867insAAT
ENST00000638117.1:n.1800+8866_1800+8867insAAT
ENST00000361727.7:c.1897+8866_1897+8867insAAT	ENSP00000354778.3:n.1897+8866_1897+8867insAAT
NM_014141.5:c.1897+8866_1897+8867insAAT	NP_054860.1:n.1897+8866_1897+8867insAAT
XM_006715919.1:c.385+8866_385+8867insAAT	XP_006715982.1:n.385+8866_385+8867insAAT
XM_017011950.2:c.1897+8866_1897+8867insAAT	XP_016867439.1:n.1897+8866_1897+8867insAAT
NM_014141.6:c.1897+8866_1897+8867insAAT MANE Select	NP_054860.1:n.1897+8866_1897+8867insAAT