Canonical Allele Identifier: CA2411008498

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721859C= , CM000684.2:g.50721859C=	GRCh38
NC_000022.10:g.51160287C= , CM000684.1:g.51160287C=	GRCh37
NC_000022.9:g.49507153C=	NCBI36
NG_008607.2:g.52505C=
NG_070230.1:g.57643C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3627C=	ENSP00000489147.2:p.Ser1209=
ENST00000414786.7:n.4211C=
ENST00000445220.7:c.2679C=	ENSP00000489407.2:p.Ser893=
ENST00000664402.2:c.2169C=	ENSP00000499475.1:p.Ser723=
ENST00000673971.2:c.*2625C=	ENSP00000501192.1:n.*2625C=
ENST00000445220.6:c.2679C=	ENSP00000489407.2:p.Ser893=
ENST00000262795.6:c.3627C=	ENSP00000489147.2:p.Ser1209=
ENST00000664402.1:c.2169C=	ENSP00000499475.1:p.Ser723=
ENST00000673971.1:c.*2625C=	ENSP00000501192.1:n.*2625C=
ENST00000262795.5:c.4023C=	ENSP00000489147.1:p.Ser1341=
ENST00000414786.6:n.4211C=
ENST00000445220.5:c.4005C=	ENSP00000489407.1:p.Ser1335=