Canonical Allele Identifier: CA2411007623

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720452G= , CM000684.2:g.50720452G=	GRCh38
NC_000022.10:g.51158880G= , CM000684.1:g.51158880G=	GRCh37
NC_000022.9:g.49505746G=	NCBI36
NG_008607.2:g.51098G=
NG_070230.1:g.56236G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2220G=	ENSP00000489147.2:p.Pro740=
ENST00000414786.7:n.2804G=
ENST00000445220.7:c.1272G=	ENSP00000489407.2:p.Pro424=
ENST00000664402.2:c.762G=	ENSP00000499475.1:p.Pro254=
ENST00000673971.2:c.*1218G=	ENSP00000501192.1:n.*1218G=
ENST00000445220.6:c.1272G=	ENSP00000489407.2:p.Pro424=
ENST00000262795.6:c.2220G=	ENSP00000489147.2:p.Pro740=
ENST00000664402.1:c.762G=	ENSP00000499475.1:p.Pro254=
ENST00000673971.1:c.*1218G=	ENSP00000501192.1:n.*1218G=
ENST00000262795.5:c.2616G=	ENSP00000489147.1:p.Pro872=
ENST00000414786.6:n.2804G=
ENST00000445220.5:c.2598G=	ENSP00000489407.1:p.Pro866=