Canonical Allele Identifier: CA1750654844

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200292_147200293delinsCA , CM000669.2:g.147200292_147200293delinsCA	GRCh38
NC_000007.13:g.146897384_146897385delinsCA , CM000669.1:g.146897384_146897385delinsCA	GRCh37
NC_000007.12:g.146528317_146528318delinsCA	NCBI36
NG_007092.2:g.1088932_1088933delinsCA
NG_007092.3:g.1089292_1089293delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+67783_1348+67784delinsCA MANE Select	ENSP00000354778.3:n.1348+67783_1348+67784delinsCA
ENST00000636870.1:n.1210+67783_1210+67784delinsCA
ENST00000637694.1:n.1251+67783_1251+67784delinsCA
ENST00000637825.1:n.831+67783_831+67784delinsCA
ENST00000638117.1:n.1251+67783_1251+67784delinsCA
ENST00000361727.7:c.1348+67783_1348+67784delinsCA	ENSP00000354778.3:n.1348+67783_1348+67784delinsCA
NM_014141.5:c.1348+67783_1348+67784delinsCA	NP_054860.1:n.1348+67783_1348+67784delinsCA
XM_017011950.2:c.1348+67783_1348+67784delinsCA	XP_016867439.1:n.1348+67783_1348+67784delinsCA
NM_014141.6:c.1348+67783_1348+67784delinsCA MANE Select	NP_054860.1:n.1348+67783_1348+67784delinsCA