Canonical Allele Identifier: CA2411008510

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721877C= , CM000684.2:g.50721877C=	GRCh38
NC_000022.10:g.51160305C= , CM000684.1:g.51160305C=	GRCh37
NC_000022.9:g.49507171C=	NCBI36
NG_008607.2:g.52523C=
NG_070230.1:g.57661C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3645C=	ENSP00000489147.2:p.Ala1215=
ENST00000414786.7:n.4229C=
ENST00000445220.7:c.2697C=	ENSP00000489407.2:p.Ala899=
ENST00000664402.2:c.2187C=	ENSP00000499475.1:p.Ala729=
ENST00000673971.2:c.*2643C=	ENSP00000501192.1:n.*2643C=
ENST00000445220.6:c.2697C=	ENSP00000489407.2:p.Ala899=
ENST00000262795.6:c.3645C=	ENSP00000489147.2:p.Ala1215=
ENST00000664402.1:c.2187C=	ENSP00000499475.1:p.Ala729=
ENST00000673971.1:c.*2643C=	ENSP00000501192.1:n.*2643C=
ENST00000262795.5:c.4041C=	ENSP00000489147.1:p.Ala1347=
ENST00000414786.6:n.4229C=
ENST00000445220.5:c.4023C=	ENSP00000489407.1:p.Ala1341=