Canonical Allele Identifier: CA2685448925

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132608-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132610del , CM000669.2:g.147132610del	GRCh38
NC_000007.13:g.146829702del , CM000669.1:g.146829702del	GRCh37
NC_000007.12:g.146460635del	NCBI36
NG_007092.2:g.1021250del
NG_007092.3:g.1021610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+101del MANE Select	ENSP00000354778.3:n.1348+101del
ENST00000636561.1:n.1251+101del
ENST00000636870.1:n.1210+101del
ENST00000637150.1:n.1277+101del
ENST00000637694.1:n.1251+101del
ENST00000637825.1:n.831+101del
ENST00000638117.1:n.1251+101del
ENST00000361727.7:c.1348+101del	ENSP00000354778.3:n.1348+101del
NM_014141.5:c.1348+101del	NP_054860.1:n.1348+101del
XM_017011950.2:c.1348+101del	XP_016867439.1:n.1348+101del
NM_014141.6:c.1348+101del MANE Select	NP_054860.1:n.1348+101del