Canonical Allele Identifier: CA2411008453

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721785C= , CM000684.2:g.50721785C=	GRCh38
NC_000022.10:g.51160213C= , CM000684.1:g.51160213C=	GRCh37
NC_000022.9:g.49507079C=	NCBI36
NG_008607.2:g.52431C=
NG_070230.1:g.57569C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3553C=	ENSP00000489147.2:p.Leu1185=
ENST00000414786.7:n.4137C=
ENST00000445220.7:c.2605C=	ENSP00000489407.2:p.Leu869=
ENST00000664402.2:c.2095C=	ENSP00000499475.1:p.Leu699=
ENST00000673971.2:c.*2551C=	ENSP00000501192.1:n.*2551C=
ENST00000445220.6:c.2605C=	ENSP00000489407.2:p.Leu869=
ENST00000262795.6:c.3553C=	ENSP00000489147.2:p.Leu1185=
ENST00000664402.1:c.2095C=	ENSP00000499475.1:p.Leu699=
ENST00000673971.1:c.*2551C=	ENSP00000501192.1:n.*2551C=
ENST00000262795.5:c.3949C=	ENSP00000489147.1:p.Leu1317=
ENST00000414786.6:n.4137C=
ENST00000445220.5:c.3931C=	ENSP00000489407.1:p.Leu1311=