Canonical Allele Identifier: CA1108410180

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1304139575
• gnomAD v3: 7-147571264-T-TC
• gnomAD v4: 7-147571264-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571270dup , CM000669.2:g.147571270dup	GRCh38
NC_000007.13:g.147268362dup , CM000669.1:g.147268362dup	GRCh37
NC_000007.12:g.146899295dup	NCBI36
NG_007092.2:g.1459910dup
NG_007092.3:g.1460270dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+9013dup MANE Select	ENSP00000354778.3:n.1897+9013dup
ENST00000636870.1:n.1759+9013dup
ENST00000637825.1:n.1380+9013dup
ENST00000638117.1:n.1800+9013dup
ENST00000361727.7:c.1897+9013dup	ENSP00000354778.3:n.1897+9013dup
NM_014141.5:c.1897+9013dup	NP_054860.1:n.1897+9013dup
XM_006715919.1:c.385+9013dup	XP_006715982.1:n.385+9013dup
XM_017011950.2:c.1897+9013dup	XP_016867439.1:n.1897+9013dup
NM_014141.6:c.1897+9013dup MANE Select	NP_054860.1:n.1897+9013dup