Canonical Allele Identifier: CA2685448915

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132583-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132583_147132584insA , CM000669.2:g.147132583_147132584insA	GRCh38
NC_000007.13:g.146829675_146829676insA , CM000669.1:g.146829675_146829676insA	GRCh37
NC_000007.12:g.146460608_146460609insA	NCBI36
NG_007092.2:g.1021223_1021224insA
NG_007092.3:g.1021583_1021584insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+74_1348+75insA MANE Select	ENSP00000354778.3:n.1348+74_1348+75insA
ENST00000636561.1:n.1251+74_1251+75insA
ENST00000636870.1:n.1210+74_1210+75insA
ENST00000637150.1:n.1277+74_1277+75insA
ENST00000637694.1:n.1251+74_1251+75insA
ENST00000637825.1:n.831+74_831+75insA
ENST00000638117.1:n.1251+74_1251+75insA
ENST00000361727.7:c.1348+74_1348+75insA	ENSP00000354778.3:n.1348+74_1348+75insA
NM_014141.5:c.1348+74_1348+75insA	NP_054860.1:n.1348+74_1348+75insA
XM_017011950.2:c.1348+74_1348+75insA	XP_016867439.1:n.1348+74_1348+75insA
NM_014141.6:c.1348+74_1348+75insA MANE Select	NP_054860.1:n.1348+74_1348+75insA