Canonical Allele Identifier: CA2411007956

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720983C= , CM000684.2:g.50720983C=	GRCh38
NC_000022.10:g.51159411C= , CM000684.1:g.51159411C=	GRCh37
NC_000022.9:g.49506277C=	NCBI36
NG_008607.2:g.51629C=
NG_070230.1:g.56767C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2751C=	ENSP00000489147.2:p.Ser917=
ENST00000414786.7:n.3335C=
ENST00000445220.7:c.1803C=	ENSP00000489407.2:p.Ser601=
ENST00000664402.2:c.1293C=	ENSP00000499475.1:p.Ser431=
ENST00000673971.2:c.*1749C=	ENSP00000501192.1:n.*1749C=
ENST00000445220.6:c.1803C=	ENSP00000489407.2:p.Ser601=
ENST00000262795.6:c.2751C=	ENSP00000489147.2:p.Ser917=
ENST00000664402.1:c.1293C=	ENSP00000499475.1:p.Ser431=
ENST00000673971.1:c.*1749C=	ENSP00000501192.1:n.*1749C=
ENST00000262795.5:c.3147C=	ENSP00000489147.1:p.Ser1049=
ENST00000414786.6:n.3335C=
ENST00000445220.5:c.3129C=	ENSP00000489407.1:p.Ser1043=