Canonical Allele Identifier: CA2411008509

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721876C= , CM000684.2:g.50721876C=	GRCh38
NC_000022.10:g.51160304C= , CM000684.1:g.51160304C=	GRCh37
NC_000022.9:g.49507170C=	NCBI36
NG_008607.2:g.52522C=
NG_070230.1:g.57660C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3644C=	ENSP00000489147.2:p.Ala1215=
ENST00000414786.7:n.4228C=
ENST00000445220.7:c.2696C=	ENSP00000489407.2:p.Ala899=
ENST00000664402.2:c.2186C=	ENSP00000499475.1:p.Ala729=
ENST00000673971.2:c.*2642C=	ENSP00000501192.1:n.*2642C=
ENST00000445220.6:c.2696C=	ENSP00000489407.2:p.Ala899=
ENST00000262795.6:c.3644C=	ENSP00000489147.2:p.Ala1215=
ENST00000664402.1:c.2186C=	ENSP00000499475.1:p.Ala729=
ENST00000673971.1:c.*2642C=	ENSP00000501192.1:n.*2642C=
ENST00000262795.5:c.4040C=	ENSP00000489147.1:p.Ala1347=
ENST00000414786.6:n.4228C=
ENST00000445220.5:c.4022C=	ENSP00000489407.1:p.Ala1341=