Canonical Allele Identifier: CA2411008160

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721309C= , CM000684.2:g.50721309C=	GRCh38
NC_000022.10:g.51159737C= , CM000684.1:g.51159737C=	GRCh37
NC_000022.9:g.49506603C=	NCBI36
NG_008607.2:g.51955C=
NG_070230.1:g.57093C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3077C=	ENSP00000489147.2:p.Pro1026=
ENST00000414786.7:n.3661C=
ENST00000445220.7:c.2129C=	ENSP00000489407.2:p.Pro710=
ENST00000664402.2:c.1619C=	ENSP00000499475.1:p.Pro540=
ENST00000673971.2:c.*2075C=	ENSP00000501192.1:n.*2075C=
ENST00000445220.6:c.2129C=	ENSP00000489407.2:p.Pro710=
ENST00000262795.6:c.3077C=	ENSP00000489147.2:p.Pro1026=
ENST00000664402.1:c.1619C=	ENSP00000499475.1:p.Pro540=
ENST00000673971.1:c.*2075C=	ENSP00000501192.1:n.*2075C=
ENST00000262795.5:c.3473C=	ENSP00000489147.1:p.Pro1158=
ENST00000414786.6:n.3661C=
ENST00000445220.5:c.3455C=	ENSP00000489407.1:p.Pro1152=