Canonical Allele Identifier: CA1750619883

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1801403360

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132783_147132784del , CM000669.2:g.147132783_147132784del	GRCh38
NC_000007.13:g.146829875_146829876del , CM000669.1:g.146829875_146829876del	GRCh37
NC_000007.12:g.146460808_146460809del	NCBI36
NG_007092.2:g.1021423_1021424del
NG_007092.3:g.1021783_1021784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+274_1348+275del MANE Select	ENSP00000354778.3:n.1348+274_1348+275del
ENST00000636561.1:n.1251+274_1251+275del
ENST00000636870.1:n.1210+274_1210+275del
ENST00000637150.1:n.1277+274_1277+275del
ENST00000637694.1:n.1251+274_1251+275del
ENST00000637825.1:n.831+274_831+275del
ENST00000638117.1:n.1251+274_1251+275del
ENST00000361727.7:c.1348+274_1348+275del	ENSP00000354778.3:n.1348+274_1348+275del
NM_014141.5:c.1348+274_1348+275del	NP_054860.1:n.1348+274_1348+275del
XM_017011950.2:c.1348+274_1348+275del	XP_016867439.1:n.1348+274_1348+275del
NM_014141.6:c.1348+274_1348+275del MANE Select	NP_054860.1:n.1348+274_1348+275del