Canonical Allele Identifier: CA2411013145

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731048G= , CM000684.2:g.50731048G=	GRCh38
NC_000022.10:g.51169476G= , CM000684.1:g.51169476G=	GRCh37
NC_000022.9:g.49516342G=	NCBI36
NG_008607.2:g.61694G=
NG_070230.1:g.66832G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4560G=	ENSP00000489147.2:p.Ser1520=
ENST00000414786.7:n.5144G=
ENST00000445220.7:c.3612G=	ENSP00000489407.2:p.Ser1204=
ENST00000664402.2:c.3102G=	ENSP00000499475.1:p.Ser1034=
ENST00000673971.2:c.*3558G=	ENSP00000501192.1:n.*3558G=
ENST00000445220.6:c.3612G=	ENSP00000489407.2:p.Ser1204=
ENST00000262795.6:c.4560G=	ENSP00000489147.2:p.Ser1520=
ENST00000659388.1:c.375G=	ENSP00000499632.1:p.Ser125=
ENST00000664402.1:c.3102G=	ENSP00000499475.1:p.Ser1034=
ENST00000673971.1:c.*3558G=	ENSP00000501192.1:n.*3558G=
ENST00000262795.5:c.4929G=	ENSP00000489147.1:p.Ser1643=
ENST00000414786.6:n.5144G=
ENST00000445220.5:c.4911G=	ENSP00000489407.1:p.Ser1637=