Canonical Allele Identifier: CA2411008327

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721564C= , CM000684.2:g.50721564C=	GRCh38
NC_000022.10:g.51159992C= , CM000684.1:g.51159992C=	GRCh37
NC_000022.9:g.49506858C=	NCBI36
NG_008607.2:g.52210C=
NG_070230.1:g.57348C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3332C=	ENSP00000489147.2:p.Ser1111=
ENST00000414786.7:n.3916C=
ENST00000445220.7:c.2384C=	ENSP00000489407.2:p.Ser795=
ENST00000664402.2:c.1874C=	ENSP00000499475.1:p.Ser625=
ENST00000673971.2:c.*2330C=	ENSP00000501192.1:n.*2330C=
ENST00000445220.6:c.2384C=	ENSP00000489407.2:p.Ser795=
ENST00000262795.6:c.3332C=	ENSP00000489147.2:p.Ser1111=
ENST00000664402.1:c.1874C=	ENSP00000499475.1:p.Ser625=
ENST00000673971.1:c.*2330C=	ENSP00000501192.1:n.*2330C=
ENST00000262795.5:c.3728C=	ENSP00000489147.1:p.Ser1243=
ENST00000414786.6:n.3916C=
ENST00000445220.5:c.3710C=	ENSP00000489407.1:p.Ser1237=