Canonical Allele Identifier: CA2411007706

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720595G= , CM000684.2:g.50720595G=	GRCh38
NC_000022.10:g.51159023G= , CM000684.1:g.51159023G=	GRCh37
NC_000022.9:g.49505889G=	NCBI36
NG_008607.2:g.51241G=
NG_070230.1:g.56379G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2363G=	ENSP00000489147.2:p.Arg788=
ENST00000414786.7:n.2947G=
ENST00000445220.7:c.1415G=	ENSP00000489407.2:p.Arg472=
ENST00000664402.2:c.905G=	ENSP00000499475.1:p.Arg302=
ENST00000673971.2:c.*1361G=	ENSP00000501192.1:n.*1361G=
ENST00000445220.6:c.1415G=	ENSP00000489407.2:p.Arg472=
ENST00000262795.6:c.2363G=	ENSP00000489147.2:p.Arg788=
ENST00000664402.1:c.905G=	ENSP00000499475.1:p.Arg302=
ENST00000673971.1:c.*1361G=	ENSP00000501192.1:n.*1361G=
ENST00000262795.5:c.2759G=	ENSP00000489147.1:p.Arg920=
ENST00000414786.6:n.2947G=
ENST00000445220.5:c.2741G=	ENSP00000489407.1:p.Arg914=