Canonical Allele Identifier: CA2685448912

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132574-CTTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132579_147132582del , CM000669.2:g.147132579_147132582del	GRCh38
NC_000007.13:g.146829671_146829674del , CM000669.1:g.146829671_146829674del	GRCh37
NC_000007.12:g.146460604_146460607del	NCBI36
NG_007092.2:g.1021219_1021222del
NG_007092.3:g.1021579_1021582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+70_1348+73del MANE Select	ENSP00000354778.3:n.1348+70_1348+73del
ENST00000636561.1:n.1251+70_1251+73del
ENST00000636870.1:n.1210+70_1210+73del
ENST00000637150.1:n.1277+70_1277+73del
ENST00000637694.1:n.1251+70_1251+73del
ENST00000637825.1:n.831+70_831+73del
ENST00000638117.1:n.1251+70_1251+73del
ENST00000361727.7:c.1348+70_1348+73del	ENSP00000354778.3:n.1348+70_1348+73del
NM_014141.5:c.1348+70_1348+73del	NP_054860.1:n.1348+70_1348+73del
XM_017011950.2:c.1348+70_1348+73del	XP_016867439.1:n.1348+70_1348+73del
NM_014141.6:c.1348+70_1348+73del MANE Select	NP_054860.1:n.1348+70_1348+73del