Canonical Allele Identifier: CA2411013142

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731042G= , CM000684.2:g.50731042G=	GRCh38
NC_000022.10:g.51169470G= , CM000684.1:g.51169470G=	GRCh37
NC_000022.9:g.49516336G=	NCBI36
NG_008607.2:g.61688G=
NG_070230.1:g.66826G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4554G=	ENSP00000489147.2:p.Leu1518=
ENST00000414786.7:n.5138G=
ENST00000445220.7:c.3606G=	ENSP00000489407.2:p.Leu1202=
ENST00000664402.2:c.3096G=	ENSP00000499475.1:p.Leu1032=
ENST00000673971.2:c.*3552G=	ENSP00000501192.1:n.*3552G=
ENST00000445220.6:c.3606G=	ENSP00000489407.2:p.Leu1202=
ENST00000262795.6:c.4554G=	ENSP00000489147.2:p.Leu1518=
ENST00000659388.1:c.369G=	ENSP00000499632.1:p.Leu123=
ENST00000664402.1:c.3096G=	ENSP00000499475.1:p.Leu1032=
ENST00000673971.1:c.*3552G=	ENSP00000501192.1:n.*3552G=
ENST00000262795.5:c.4923G=	ENSP00000489147.1:p.Leu1641=
ENST00000414786.6:n.5138G=
ENST00000445220.5:c.4905G=	ENSP00000489407.1:p.Leu1635=