Canonical Allele Identifier: CA1750992871

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147882765_147882768delinsAGAC , CM000669.2:g.147882765_147882768delinsAGAC	GRCh38
NC_000007.13:g.147579857_147579860delinsAGAC , CM000669.1:g.147579857_147579860delinsAGAC	GRCh37
NC_000007.12:g.147210790_147210793delinsAGAC	NCBI36
NG_007092.2:g.1771405_1771408delinsAGAC
NG_007092.3:g.1771765_1771768delinsAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-20800_2099-20797delinsAGAC MANE Select	ENSP00000354778.3:n.2099-20800_2099-20797delinsAGAC
ENST00000636870.1:n.1961-20800_1961-20797delinsAGAC
ENST00000637825.1:n.1582-20800_1582-20797delinsAGAC
ENST00000361727.7:c.2099-20800_2099-20797delinsAGAC	ENSP00000354778.3:n.2099-20800_2099-20797delinsAGAC
ENST00000455301.2:n.34-20800_34-20797delinsAGAC
ENST00000627772.2:n.272-20800_272-20797delinsAGAC
NM_014141.5:c.2099-20800_2099-20797delinsAGAC	NP_054860.1:n.2099-20800_2099-20797delinsAGAC
XM_006715919.1:c.587-20800_587-20797delinsAGAC	XP_006715982.1:n.587-20800_587-20797delinsAGAC
NM_014141.6:c.2099-20800_2099-20797delinsAGAC MANE Select	NP_054860.1:n.2099-20800_2099-20797delinsAGAC