Canonical Allele Identifier: CA2411008523

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721898T= , CM000684.2:g.50721898T=	GRCh38
NC_000022.10:g.51160326T= , CM000684.1:g.51160326T=	GRCh37
NC_000022.9:g.49507192T=	NCBI36
NG_008607.2:g.52544T=
NG_070230.1:g.57682T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3666T=	ENSP00000489147.2:p.Ser1222=
ENST00000414786.7:n.4250T=
ENST00000445220.7:c.2718T=	ENSP00000489407.2:p.Ser906=
ENST00000664402.2:c.2208T=	ENSP00000499475.1:p.Ser736=
ENST00000673971.2:c.*2664T=	ENSP00000501192.1:n.*2664T=
ENST00000445220.6:c.2718T=	ENSP00000489407.2:p.Ser906=
ENST00000262795.6:c.3666T=	ENSP00000489147.2:p.Ser1222=
ENST00000664402.1:c.2208T=	ENSP00000499475.1:p.Ser736=
ENST00000673971.1:c.*2664T=	ENSP00000501192.1:n.*2664T=
ENST00000262795.5:c.4062T=	ENSP00000489147.1:p.Ser1354=
ENST00000414786.6:n.4250T=
ENST00000445220.5:c.4044T=	ENSP00000489407.1:p.Ser1348=