Canonical Allele Identifier: CA2411007999

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721048C= , CM000684.2:g.50721048C=	GRCh38
NC_000022.10:g.51159476C= , CM000684.1:g.51159476C=	GRCh37
NC_000022.9:g.49506342C=	NCBI36
NG_008607.2:g.51694C=
NG_070230.1:g.56832C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2816C=	ENSP00000489147.2:p.Ser939=
ENST00000414786.7:n.3400C=
ENST00000445220.7:c.1868C=	ENSP00000489407.2:p.Ser623=
ENST00000664402.2:c.1358C=	ENSP00000499475.1:p.Ser453=
ENST00000673971.2:c.*1814C=	ENSP00000501192.1:n.*1814C=
ENST00000445220.6:c.1868C=	ENSP00000489407.2:p.Ser623=
ENST00000262795.6:c.2816C=	ENSP00000489147.2:p.Ser939=
ENST00000664402.1:c.1358C=	ENSP00000499475.1:p.Ser453=
ENST00000673971.1:c.*1814C=	ENSP00000501192.1:n.*1814C=
ENST00000262795.5:c.3212C=	ENSP00000489147.1:p.Ser1071=
ENST00000414786.6:n.3400C=
ENST00000445220.5:c.3194C=	ENSP00000489407.1:p.Ser1065=