Canonical Allele Identifier: CA2411008686

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722214G= , CM000684.2:g.50722214G=	GRCh38
NC_000022.10:g.51160642G= , CM000684.1:g.51160642G=	GRCh37
NC_000022.9:g.49507508G=	NCBI36
NG_008607.2:g.52860G=
NG_070230.1:g.57998G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3982G=	ENSP00000489147.2:p.Ala1328=
ENST00000414786.7:n.4566G=
ENST00000445220.7:c.3034G=	ENSP00000489407.2:p.Ala1012=
ENST00000664402.2:c.2524G=	ENSP00000499475.1:p.Ala842=
ENST00000673971.2:c.*2980G=	ENSP00000501192.1:n.*2980G=
ENST00000445220.6:c.3034G=	ENSP00000489407.2:p.Ala1012=
ENST00000262795.6:c.3982G=	ENSP00000489147.2:p.Ala1328=
ENST00000664402.1:c.2524G=	ENSP00000499475.1:p.Ala842=
ENST00000673971.1:c.*2980G=	ENSP00000501192.1:n.*2980G=
ENST00000262795.5:c.4378G=	ENSP00000489147.1:p.Ala1460=
ENST00000414786.6:n.4566G=
ENST00000445220.5:c.4360G=	ENSP00000489407.1:p.Ala1454=