Canonical Allele Identifier: CA2411008415

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721715T= , CM000684.2:g.50721715T=	GRCh38
NC_000022.10:g.51160143T= , CM000684.1:g.51160143T=	GRCh37
NC_000022.9:g.49507009T=	NCBI36
NG_008607.2:g.52361T=
NG_070230.1:g.57499T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3483T=	ENSP00000489147.2:p.Asp1161=
ENST00000414786.7:n.4067T=
ENST00000445220.7:c.2535T=	ENSP00000489407.2:p.Asp845=
ENST00000664402.2:c.2025T=	ENSP00000499475.1:p.Asp675=
ENST00000673971.2:c.*2481T=	ENSP00000501192.1:n.*2481T=
ENST00000445220.6:c.2535T=	ENSP00000489407.2:p.Asp845=
ENST00000262795.6:c.3483T=	ENSP00000489147.2:p.Asp1161=
ENST00000664402.1:c.2025T=	ENSP00000499475.1:p.Asp675=
ENST00000673971.1:c.*2481T=	ENSP00000501192.1:n.*2481T=
ENST00000262795.5:c.3879T=	ENSP00000489147.1:p.Asp1293=
ENST00000414786.6:n.4067T=
ENST00000445220.5:c.3861T=	ENSP00000489407.1:p.Asp1287=