Canonical Allele Identifier: CA2411008099

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721221C= , CM000684.2:g.50721221C=	GRCh38
NC_000022.10:g.51159649C= , CM000684.1:g.51159649C=	GRCh37
NC_000022.9:g.49506515C=	NCBI36
NG_008607.2:g.51867C=
NG_070230.1:g.57005C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2989C=	ENSP00000489147.2:p.Pro997=
ENST00000414786.7:n.3573C=
ENST00000445220.7:c.2041C=	ENSP00000489407.2:p.Pro681=
ENST00000664402.2:c.1531C=	ENSP00000499475.1:p.Pro511=
ENST00000673971.2:c.*1987C=	ENSP00000501192.1:n.*1987C=
ENST00000445220.6:c.2041C=	ENSP00000489407.2:p.Pro681=
ENST00000262795.6:c.2989C=	ENSP00000489147.2:p.Pro997=
ENST00000664402.1:c.1531C=	ENSP00000499475.1:p.Pro511=
ENST00000673971.1:c.*1987C=	ENSP00000501192.1:n.*1987C=
ENST00000262795.5:c.3385C=	ENSP00000489147.1:p.Pro1129=
ENST00000414786.6:n.3573C=
ENST00000445220.5:c.3367C=	ENSP00000489407.1:p.Pro1123=