Canonical Allele Identifier: CA2411008080

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721185G= , CM000684.2:g.50721185G=	GRCh38
NC_000022.10:g.51159613G= , CM000684.1:g.51159613G=	GRCh37
NC_000022.9:g.49506479G=	NCBI36
NG_008607.2:g.51831G=
NG_070230.1:g.56969G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2953G=	ENSP00000489147.2:p.Ala985=
ENST00000414786.7:n.3537G=
ENST00000445220.7:c.2005G=	ENSP00000489407.2:p.Ala669=
ENST00000664402.2:c.1495G=	ENSP00000499475.1:p.Ala499=
ENST00000673971.2:c.*1951G=	ENSP00000501192.1:n.*1951G=
ENST00000445220.6:c.2005G=	ENSP00000489407.2:p.Ala669=
ENST00000262795.6:c.2953G=	ENSP00000489147.2:p.Ala985=
ENST00000664402.1:c.1495G=	ENSP00000499475.1:p.Ala499=
ENST00000673971.1:c.*1951G=	ENSP00000501192.1:n.*1951G=
ENST00000262795.5:c.3349G=	ENSP00000489147.1:p.Ala1117=
ENST00000414786.6:n.3537G=
ENST00000445220.5:c.3331G=	ENSP00000489407.1:p.Ala1111=