Canonical Allele Identifier: CA2411008673

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722193C= , CM000684.2:g.50722193C=	GRCh38
NC_000022.10:g.51160621C= , CM000684.1:g.51160621C=	GRCh37
NC_000022.9:g.49507487C=	NCBI36
NG_008607.2:g.52839C=
NG_070230.1:g.57977C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3961C=	ENSP00000489147.2:p.Leu1321=
ENST00000414786.7:n.4545C=
ENST00000445220.7:c.3013C=	ENSP00000489407.2:p.Leu1005=
ENST00000664402.2:c.2503C=	ENSP00000499475.1:p.Leu835=
ENST00000673971.2:c.*2959C=	ENSP00000501192.1:n.*2959C=
ENST00000445220.6:c.3013C=	ENSP00000489407.2:p.Leu1005=
ENST00000262795.6:c.3961C=	ENSP00000489147.2:p.Leu1321=
ENST00000664402.1:c.2503C=	ENSP00000499475.1:p.Leu835=
ENST00000673971.1:c.*2959C=	ENSP00000501192.1:n.*2959C=
ENST00000262795.5:c.4357C=	ENSP00000489147.1:p.Leu1453=
ENST00000414786.6:n.4545C=
ENST00000445220.5:c.4339C=	ENSP00000489407.1:p.Leu1447=