Canonical Allele Identifier: CA2411008600

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722055G= , CM000684.2:g.50722055G=	GRCh38
NC_000022.10:g.51160483G= , CM000684.1:g.51160483G=	GRCh37
NC_000022.9:g.49507349G=	NCBI36
NG_008607.2:g.52701G=
NG_070230.1:g.57839G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3823G=	ENSP00000489147.2:p.Glu1275=
ENST00000414786.7:n.4407G=
ENST00000445220.7:c.2875G=	ENSP00000489407.2:p.Glu959=
ENST00000664402.2:c.2365G=	ENSP00000499475.1:p.Glu789=
ENST00000673971.2:c.*2821G=	ENSP00000501192.1:n.*2821G=
ENST00000445220.6:c.2875G=	ENSP00000489407.2:p.Glu959=
ENST00000262795.6:c.3823G=	ENSP00000489147.2:p.Glu1275=
ENST00000664402.1:c.2365G=	ENSP00000499475.1:p.Glu789=
ENST00000673971.1:c.*2821G=	ENSP00000501192.1:n.*2821G=
ENST00000262795.5:c.4219G=	ENSP00000489147.1:p.Glu1407=
ENST00000414786.6:n.4407G=
ENST00000445220.5:c.4201G=	ENSP00000489407.1:p.Glu1401=