Canonical Allele Identifier: CA2411008658

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722169C= , CM000684.2:g.50722169C=	GRCh38
NC_000022.10:g.51160597C= , CM000684.1:g.51160597C=	GRCh37
NC_000022.9:g.49507463C=	NCBI36
NG_008607.2:g.52815C=
NG_070230.1:g.57953C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3937C=	ENSP00000489147.2:p.Gln1313=
ENST00000414786.7:n.4521C=
ENST00000445220.7:c.2989C=	ENSP00000489407.2:p.Gln997=
ENST00000664402.2:c.2479C=	ENSP00000499475.1:p.Gln827=
ENST00000673971.2:c.*2935C=	ENSP00000501192.1:n.*2935C=
ENST00000445220.6:c.2989C=	ENSP00000489407.2:p.Gln997=
ENST00000262795.6:c.3937C=	ENSP00000489147.2:p.Gln1313=
ENST00000664402.1:c.2479C=	ENSP00000499475.1:p.Gln827=
ENST00000673971.1:c.*2935C=	ENSP00000501192.1:n.*2935C=
ENST00000262795.5:c.4333C=	ENSP00000489147.1:p.Gln1445=
ENST00000414786.6:n.4521C=
ENST00000445220.5:c.4315C=	ENSP00000489407.1:p.Gln1439=