Canonical Allele Identifier: CA2685448907

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132566-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132570_147132572del , CM000669.2:g.147132570_147132572del	GRCh38
NC_000007.13:g.146829662_146829664del , CM000669.1:g.146829662_146829664del	GRCh37
NC_000007.12:g.146460595_146460597del	NCBI36
NG_007092.2:g.1021210_1021212del
NG_007092.3:g.1021570_1021572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+61_1348+63del MANE Select	ENSP00000354778.3:n.1348+61_1348+63del
ENST00000636561.1:n.1251+61_1251+63del
ENST00000636870.1:n.1210+61_1210+63del
ENST00000637150.1:n.1277+61_1277+63del
ENST00000637694.1:n.1251+61_1251+63del
ENST00000637825.1:n.831+61_831+63del
ENST00000638117.1:n.1251+61_1251+63del
ENST00000361727.7:c.1348+61_1348+63del	ENSP00000354778.3:n.1348+61_1348+63del
NM_014141.5:c.1348+61_1348+63del	NP_054860.1:n.1348+61_1348+63del
XM_017011950.2:c.1348+61_1348+63del	XP_016867439.1:n.1348+61_1348+63del
NM_014141.6:c.1348+61_1348+63del MANE Select	NP_054860.1:n.1348+61_1348+63del