Canonical Allele Identifier: CA2411008203

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721383G= , CM000684.2:g.50721383G=	GRCh38
NC_000022.10:g.51159811G= , CM000684.1:g.51159811G=	GRCh37
NC_000022.9:g.49506677G=	NCBI36
NG_008607.2:g.52029G=
NG_070230.1:g.57167G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3151G=	ENSP00000489147.2:p.Glu1051=
ENST00000414786.7:n.3735G=
ENST00000445220.7:c.2203G=	ENSP00000489407.2:p.Glu735=
ENST00000664402.2:c.1693G=	ENSP00000499475.1:p.Glu565=
ENST00000673971.2:c.*2149G=	ENSP00000501192.1:n.*2149G=
ENST00000445220.6:c.2203G=	ENSP00000489407.2:p.Glu735=
ENST00000262795.6:c.3151G=	ENSP00000489147.2:p.Glu1051=
ENST00000664402.1:c.1693G=	ENSP00000499475.1:p.Glu565=
ENST00000673971.1:c.*2149G=	ENSP00000501192.1:n.*2149G=
ENST00000262795.5:c.3547G=	ENSP00000489147.1:p.Glu1183=
ENST00000414786.6:n.3735G=
ENST00000445220.5:c.3529G=	ENSP00000489407.1:p.Glu1177=