Canonical Allele Identifier: CA2411007792

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720744G= , CM000684.2:g.50720744G=	GRCh38
NC_000022.10:g.51159172G= , CM000684.1:g.51159172G=	GRCh37
NC_000022.9:g.49506038G=	NCBI36
NG_008607.2:g.51390G=
NG_070230.1:g.56528G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2512G=	ENSP00000489147.2:p.Val838=
ENST00000414786.7:n.3096G=
ENST00000445220.7:c.1564G=	ENSP00000489407.2:p.Val522=
ENST00000664402.2:c.1054G=	ENSP00000499475.1:p.Val352=
ENST00000673971.2:c.*1510G=	ENSP00000501192.1:n.*1510G=
ENST00000445220.6:c.1564G=	ENSP00000489407.2:p.Val522=
ENST00000262795.6:c.2512G=	ENSP00000489147.2:p.Val838=
ENST00000664402.1:c.1054G=	ENSP00000499475.1:p.Val352=
ENST00000673971.1:c.*1510G=	ENSP00000501192.1:n.*1510G=
ENST00000262795.5:c.2908G=	ENSP00000489147.1:p.Val970=
ENST00000414786.6:n.3096G=
ENST00000445220.5:c.2890G=	ENSP00000489407.1:p.Val964=