Canonical Allele Identifier: CA1750654936

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200485_147200486delinsGA , CM000669.2:g.147200485_147200486delinsGA	GRCh38
NC_000007.13:g.146897577_146897578delinsGA , CM000669.1:g.146897577_146897578delinsGA	GRCh37
NC_000007.12:g.146528510_146528511delinsGA	NCBI36
NG_007092.2:g.1089125_1089126delinsGA
NG_007092.3:g.1089485_1089486delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+67976_1348+67977delinsGA MANE Select	ENSP00000354778.3:n.1348+67976_1348+67977delinsGA
ENST00000636870.1:n.1210+67976_1210+67977delinsGA
ENST00000637694.1:n.1251+67976_1251+67977delinsGA
ENST00000637825.1:n.831+67976_831+67977delinsGA
ENST00000638117.1:n.1251+67976_1251+67977delinsGA
ENST00000361727.7:c.1348+67976_1348+67977delinsGA	ENSP00000354778.3:n.1348+67976_1348+67977delinsGA
NM_014141.5:c.1348+67976_1348+67977delinsGA	NP_054860.1:n.1348+67976_1348+67977delinsGA
XM_017011950.2:c.1348+67976_1348+67977delinsGA	XP_016867439.1:n.1348+67976_1348+67977delinsGA
NM_014141.6:c.1348+67976_1348+67977delinsGA MANE Select	NP_054860.1:n.1348+67976_1348+67977delinsGA