Canonical Allele Identifier: CA1750619880

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132782_147132784delinsAAT , CM000669.2:g.147132782_147132784delinsAAT	GRCh38
NC_000007.13:g.146829874_146829876delinsAAT , CM000669.1:g.146829874_146829876delinsAAT	GRCh37
NC_000007.12:g.146460807_146460809delinsAAT	NCBI36
NG_007092.2:g.1021422_1021424delinsAAT
NG_007092.3:g.1021782_1021784delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+273_1348+275delinsAAT MANE Select	ENSP00000354778.3:n.1348+273_1348+275delinsAAT
ENST00000636561.1:n.1251+273_1251+275delinsAAT
ENST00000636870.1:n.1210+273_1210+275delinsAAT
ENST00000637150.1:n.1277+273_1277+275delinsAAT
ENST00000637694.1:n.1251+273_1251+275delinsAAT
ENST00000637825.1:n.831+273_831+275delinsAAT
ENST00000638117.1:n.1251+273_1251+275delinsAAT
ENST00000361727.7:c.1348+273_1348+275delinsAAT	ENSP00000354778.3:n.1348+273_1348+275delinsAAT
NM_014141.5:c.1348+273_1348+275delinsAAT	NP_054860.1:n.1348+273_1348+275delinsAAT
XM_017011950.2:c.1348+273_1348+275delinsAAT	XP_016867439.1:n.1348+273_1348+275delinsAAT
NM_014141.6:c.1348+273_1348+275delinsAAT MANE Select	NP_054860.1:n.1348+273_1348+275delinsAAT