Canonical Allele Identifier: CA2411008618

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722098T= , CM000684.2:g.50722098T=	GRCh38
NC_000022.10:g.51160526T= , CM000684.1:g.51160526T=	GRCh37
NC_000022.9:g.49507392T=	NCBI36
NG_008607.2:g.52744T=
NG_070230.1:g.57882T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3866T=	ENSP00000489147.2:p.Leu1289=
ENST00000414786.7:n.4450T=
ENST00000445220.7:c.2918T=	ENSP00000489407.2:p.Leu973=
ENST00000664402.2:c.2408T=	ENSP00000499475.1:p.Leu803=
ENST00000673971.2:c.*2864T=	ENSP00000501192.1:n.*2864T=
ENST00000445220.6:c.2918T=	ENSP00000489407.2:p.Leu973=
ENST00000262795.6:c.3866T=	ENSP00000489147.2:p.Leu1289=
ENST00000664402.1:c.2408T=	ENSP00000499475.1:p.Leu803=
ENST00000673971.1:c.*2864T=	ENSP00000501192.1:n.*2864T=
ENST00000262795.5:c.4262T=	ENSP00000489147.1:p.Leu1421=
ENST00000414786.6:n.4450T=
ENST00000445220.5:c.4244T=	ENSP00000489407.1:p.Leu1415=