Canonical Allele Identifier: CA1750619913

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1801404704

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132845_147132846del , CM000669.2:g.147132845_147132846del	GRCh38
NC_000007.13:g.146829937_146829938del , CM000669.1:g.146829937_146829938del	GRCh37
NC_000007.12:g.146460870_146460871del	NCBI36
NG_007092.2:g.1021485_1021486del
NG_007092.3:g.1021845_1021846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+336_1348+337del MANE Select	ENSP00000354778.3:n.1348+336_1348+337del
ENST00000636561.1:n.1251+336_1251+337del
ENST00000636870.1:n.1210+336_1210+337del
ENST00000637150.1:n.1277+336_1277+337del
ENST00000637694.1:n.1251+336_1251+337del
ENST00000637825.1:n.831+336_831+337del
ENST00000638117.1:n.1251+336_1251+337del
ENST00000361727.7:c.1348+336_1348+337del	ENSP00000354778.3:n.1348+336_1348+337del
NM_014141.5:c.1348+336_1348+337del	NP_054860.1:n.1348+336_1348+337del
XM_017011950.2:c.1348+336_1348+337del	XP_016867439.1:n.1348+336_1348+337del
NM_014141.6:c.1348+336_1348+337del MANE Select	NP_054860.1:n.1348+336_1348+337del