Canonical Allele Identifier: CA2411008659

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722174C= , CM000684.2:g.50722174C=	GRCh38
NC_000022.10:g.51160602C= , CM000684.1:g.51160602C=	GRCh37
NC_000022.9:g.49507468C=	NCBI36
NG_008607.2:g.52820C=
NG_070230.1:g.57958C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3942C=	ENSP00000489147.2:p.His1314=
ENST00000414786.7:n.4526C=
ENST00000445220.7:c.2994C=	ENSP00000489407.2:p.His998=
ENST00000664402.2:c.2484C=	ENSP00000499475.1:p.His828=
ENST00000673971.2:c.*2940C=	ENSP00000501192.1:n.*2940C=
ENST00000445220.6:c.2994C=	ENSP00000489407.2:p.His998=
ENST00000262795.6:c.3942C=	ENSP00000489147.2:p.His1314=
ENST00000664402.1:c.2484C=	ENSP00000499475.1:p.His828=
ENST00000673971.1:c.*2940C=	ENSP00000501192.1:n.*2940C=
ENST00000262795.5:c.4338C=	ENSP00000489147.1:p.His1446=
ENST00000414786.6:n.4526C=
ENST00000445220.5:c.4320C=	ENSP00000489407.1:p.His1440=