Canonical Allele Identifier: CA1750654792

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200182_147200183delinsGA , CM000669.2:g.147200182_147200183delinsGA	GRCh38
NC_000007.13:g.146897274_146897275delinsGA , CM000669.1:g.146897274_146897275delinsGA	GRCh37
NC_000007.12:g.146528207_146528208delinsGA	NCBI36
NG_007092.2:g.1088822_1088823delinsGA
NG_007092.3:g.1089182_1089183delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+67673_1348+67674delinsGA MANE Select	ENSP00000354778.3:n.1348+67673_1348+67674delinsGA
ENST00000636870.1:n.1210+67673_1210+67674delinsGA
ENST00000637694.1:n.1251+67673_1251+67674delinsGA
ENST00000637825.1:n.831+67673_831+67674delinsGA
ENST00000638117.1:n.1251+67673_1251+67674delinsGA
ENST00000361727.7:c.1348+67673_1348+67674delinsGA	ENSP00000354778.3:n.1348+67673_1348+67674delinsGA
NM_014141.5:c.1348+67673_1348+67674delinsGA	NP_054860.1:n.1348+67673_1348+67674delinsGA
XM_017011950.2:c.1348+67673_1348+67674delinsGA	XP_016867439.1:n.1348+67673_1348+67674delinsGA
NM_014141.6:c.1348+67673_1348+67674delinsGA MANE Select	NP_054860.1:n.1348+67673_1348+67674delinsGA