Canonical Allele Identifier: CA2411008614

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722093C= , CM000684.2:g.50722093C=	GRCh38
NC_000022.10:g.51160521C= , CM000684.1:g.51160521C=	GRCh37
NC_000022.9:g.49507387C=	NCBI36
NG_008607.2:g.52739C=
NG_070230.1:g.57877C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3861C=	ENSP00000489147.2:p.Ser1287=
ENST00000414786.7:n.4445C=
ENST00000445220.7:c.2913C=	ENSP00000489407.2:p.Ser971=
ENST00000664402.2:c.2403C=	ENSP00000499475.1:p.Ser801=
ENST00000673971.2:c.*2859C=	ENSP00000501192.1:n.*2859C=
ENST00000445220.6:c.2913C=	ENSP00000489407.2:p.Ser971=
ENST00000262795.6:c.3861C=	ENSP00000489147.2:p.Ser1287=
ENST00000664402.1:c.2403C=	ENSP00000499475.1:p.Ser801=
ENST00000673971.1:c.*2859C=	ENSP00000501192.1:n.*2859C=
ENST00000262795.5:c.4257C=	ENSP00000489147.1:p.Ser1419=
ENST00000414786.6:n.4445C=
ENST00000445220.5:c.4239C=	ENSP00000489407.1:p.Ser1413=