Canonical Allele Identifier: CA1750841594

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571118_147571121delinsCTTT , CM000669.2:g.147571118_147571121delinsCTTT	GRCh38
NC_000007.13:g.147268210_147268213delinsCTTT , CM000669.1:g.147268210_147268213delinsCTTT	GRCh37
NC_000007.12:g.146899143_146899146delinsCTTT	NCBI36
NG_007092.2:g.1459758_1459761delinsCTTT
NG_007092.3:g.1460118_1460121delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8861_1897+8864delinsCTTT MANE Select	ENSP00000354778.3:n.1897+8861_1897+8864delinsCTTT
ENST00000636870.1:n.1759+8861_1759+8864delinsCTTT
ENST00000637825.1:n.1380+8861_1380+8864delinsCTTT
ENST00000638117.1:n.1800+8861_1800+8864delinsCTTT
ENST00000361727.7:c.1897+8861_1897+8864delinsCTTT	ENSP00000354778.3:n.1897+8861_1897+8864delinsCTTT
NM_014141.5:c.1897+8861_1897+8864delinsCTTT	NP_054860.1:n.1897+8861_1897+8864delinsCTTT
XM_006715919.1:c.385+8861_385+8864delinsCTTT	XP_006715982.1:n.385+8861_385+8864delinsCTTT
XM_017011950.2:c.1897+8861_1897+8864delinsCTTT	XP_016867439.1:n.1897+8861_1897+8864delinsCTTT
NM_014141.6:c.1897+8861_1897+8864delinsCTTT MANE Select	NP_054860.1:n.1897+8861_1897+8864delinsCTTT