Canonical Allele Identifier: CA2411008255

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721462T= , CM000684.2:g.50721462T=	GRCh38
NC_000022.10:g.51159890T= , CM000684.1:g.51159890T=	GRCh37
NC_000022.9:g.49506756T=	NCBI36
NG_008607.2:g.52108T=
NG_070230.1:g.57246T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3230T=	ENSP00000489147.2:p.Ile1077=
ENST00000414786.7:n.3814T=
ENST00000445220.7:c.2282T=	ENSP00000489407.2:p.Ile761=
ENST00000664402.2:c.1772T=	ENSP00000499475.1:p.Ile591=
ENST00000673971.2:c.*2228T=	ENSP00000501192.1:n.*2228T=
ENST00000445220.6:c.2282T=	ENSP00000489407.2:p.Ile761=
ENST00000262795.6:c.3230T=	ENSP00000489147.2:p.Ile1077=
ENST00000664402.1:c.1772T=	ENSP00000499475.1:p.Ile591=
ENST00000673971.1:c.*2228T=	ENSP00000501192.1:n.*2228T=
ENST00000262795.5:c.3626T=	ENSP00000489147.1:p.Ile1209=
ENST00000414786.6:n.3814T=
ENST00000445220.5:c.3608T=	ENSP00000489407.1:p.Ile1203=