Canonical Allele Identifier: CA1750992783

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147882675_147882676delinsCT , CM000669.2:g.147882675_147882676delinsCT	GRCh38
NC_000007.13:g.147579767_147579768delinsCT , CM000669.1:g.147579767_147579768delinsCT	GRCh37
NC_000007.12:g.147210700_147210701delinsCT	NCBI36
NG_007092.2:g.1771315_1771316delinsCT
NG_007092.3:g.1771675_1771676delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-20890_2099-20889delinsCT MANE Select	ENSP00000354778.3:n.2099-20890_2099-20889delinsCT
ENST00000636870.1:n.1961-20890_1961-20889delinsCT
ENST00000637825.1:n.1582-20890_1582-20889delinsCT
ENST00000361727.7:c.2099-20890_2099-20889delinsCT	ENSP00000354778.3:n.2099-20890_2099-20889delinsCT
ENST00000455301.2:n.34-20890_34-20889delinsCT
ENST00000627772.2:n.272-20890_272-20889delinsCT
NM_014141.5:c.2099-20890_2099-20889delinsCT	NP_054860.1:n.2099-20890_2099-20889delinsCT
XM_006715919.1:c.587-20890_587-20889delinsCT	XP_006715982.1:n.587-20890_587-20889delinsCT
NM_014141.6:c.2099-20890_2099-20889delinsCT MANE Select	NP_054860.1:n.2099-20890_2099-20889delinsCT