Canonical Allele Identifier: CA2411007572

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720349C= , CM000684.2:g.50720349C=	GRCh38
NC_000022.10:g.51158777C= , CM000684.1:g.51158777C=	GRCh37
NC_000022.9:g.49505643C=	NCBI36
NG_008607.2:g.50995C=
NG_070230.1:g.56133C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2117C=	ENSP00000489147.2:p.Ser706=
ENST00000414786.7:n.2701C=
ENST00000445220.7:c.1169C=	ENSP00000489407.2:p.Ser390=
ENST00000664402.2:c.659C=	ENSP00000499475.1:p.Ser220=
ENST00000673971.2:c.*1115C=	ENSP00000501192.1:n.*1115C=
ENST00000445220.6:c.1169C=	ENSP00000489407.2:p.Ser390=
ENST00000262795.6:c.2117C=	ENSP00000489147.2:p.Ser706=
ENST00000664402.1:c.659C=	ENSP00000499475.1:p.Ser220=
ENST00000673971.1:c.*1115C=	ENSP00000501192.1:n.*1115C=
ENST00000262795.5:c.2513C=	ENSP00000489147.1:p.Ser838=
ENST00000414786.6:n.2701C=
ENST00000445220.5:c.2495C=	ENSP00000489407.1:p.Ser832=