Canonical Allele Identifier: CA2411007751

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720672C= , CM000684.2:g.50720672C=	GRCh38
NC_000022.10:g.51159100C= , CM000684.1:g.51159100C=	GRCh37
NC_000022.9:g.49505966C=	NCBI36
NG_008607.2:g.51318C=
NG_070230.1:g.56456C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2440C=	ENSP00000489147.2:p.Pro814=
ENST00000414786.7:n.3024C=
ENST00000445220.7:c.1492C=	ENSP00000489407.2:p.Pro498=
ENST00000664402.2:c.982C=	ENSP00000499475.1:p.Pro328=
ENST00000673971.2:c.*1438C=	ENSP00000501192.1:n.*1438C=
ENST00000445220.6:c.1492C=	ENSP00000489407.2:p.Pro498=
ENST00000262795.6:c.2440C=	ENSP00000489147.2:p.Pro814=
ENST00000664402.1:c.982C=	ENSP00000499475.1:p.Pro328=
ENST00000673971.1:c.*1438C=	ENSP00000501192.1:n.*1438C=
ENST00000262795.5:c.2836C=	ENSP00000489147.1:p.Pro946=
ENST00000414786.6:n.3024C=
ENST00000445220.5:c.2818C=	ENSP00000489407.1:p.Pro940=