Canonical Allele Identifier: CA2411007574

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720353G= , CM000684.2:g.50720353G=	GRCh38
NC_000022.10:g.51158781G= , CM000684.1:g.51158781G=	GRCh37
NC_000022.9:g.49505647G=	NCBI36
NG_008607.2:g.50999G=
NG_070230.1:g.56137G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2121G=	ENSP00000489147.2:p.Pro707=
ENST00000414786.7:n.2705G=
ENST00000445220.7:c.1173G=	ENSP00000489407.2:p.Pro391=
ENST00000664402.2:c.663G=	ENSP00000499475.1:p.Pro221=
ENST00000673971.2:c.*1119G=	ENSP00000501192.1:n.*1119G=
ENST00000445220.6:c.1173G=	ENSP00000489407.2:p.Pro391=
ENST00000262795.6:c.2121G=	ENSP00000489147.2:p.Pro707=
ENST00000664402.1:c.663G=	ENSP00000499475.1:p.Pro221=
ENST00000673971.1:c.*1119G=	ENSP00000501192.1:n.*1119G=
ENST00000262795.5:c.2517G=	ENSP00000489147.1:p.Pro839=
ENST00000414786.6:n.2705G=
ENST00000445220.5:c.2499G=	ENSP00000489407.1:p.Pro833=