Canonical Allele Identifier: CA1750443610

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792250_146792254delinsCAAAA , CM000669.2:g.146792250_146792254delinsCAAAA	GRCh38
NC_000007.13:g.146489342_146489346delinsCAAAA , CM000669.1:g.146489342_146489346delinsCAAAA	GRCh37
NC_000007.12:g.146120275_146120279delinsCAAAA	NCBI36
NG_007092.2:g.680890_680894delinsCAAAA
NG_007092.3:g.681250_681254delinsCAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+17869_208+17873delinsCAAAA MANE Select	ENSP00000354778.3:n.208+17869_208+17873delinsCAAAA
ENST00000636561.1:n.111+17869_111+17873delinsCAAAA
ENST00000637150.1:n.137+17869_137+17873delinsCAAAA
ENST00000637694.1:n.111+17869_111+17873delinsCAAAA
ENST00000638117.1:n.111+17869_111+17873delinsCAAAA
ENST00000361727.7:c.208+17869_208+17873delinsCAAAA	ENSP00000354778.3:n.208+17869_208+17873delinsCAAAA
ENST00000625365.2:c.208+17869_208+17873delinsCAAAA	ENSP00000485955.1:n.208+17869_208+17873delinsCAAAA
NM_014141.5:c.208+17869_208+17873delinsCAAAA	NP_054860.1:n.208+17869_208+17873delinsCAAAA
XM_017011950.2:c.208+17869_208+17873delinsCAAAA	XP_016867439.1:n.208+17869_208+17873delinsCAAAA
NM_014141.6:c.208+17869_208+17873delinsCAAAA MANE Select	NP_054860.1:n.208+17869_208+17873delinsCAAAA