Canonical Allele Identifier: CA2411007704

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720591C= , CM000684.2:g.50720591C=	GRCh38
NC_000022.10:g.51159019C= , CM000684.1:g.51159019C=	GRCh37
NC_000022.9:g.49505885C=	NCBI36
NG_008607.2:g.51237C=
NG_070230.1:g.56375C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2359C=	ENSP00000489147.2:p.Arg787=
ENST00000414786.7:n.2943C=
ENST00000445220.7:c.1411C=	ENSP00000489407.2:p.Arg471=
ENST00000664402.2:c.901C=	ENSP00000499475.1:p.Arg301=
ENST00000673971.2:c.*1357C=	ENSP00000501192.1:n.*1357C=
ENST00000445220.6:c.1411C=	ENSP00000489407.2:p.Arg471=
ENST00000262795.6:c.2359C=	ENSP00000489147.2:p.Arg787=
ENST00000664402.1:c.901C=	ENSP00000499475.1:p.Arg301=
ENST00000673971.1:c.*1357C=	ENSP00000501192.1:n.*1357C=
ENST00000262795.5:c.2755C=	ENSP00000489147.1:p.Arg919=
ENST00000414786.6:n.2943C=
ENST00000445220.5:c.2737C=	ENSP00000489407.1:p.Arg913=