Canonical Allele Identifier: CA2411008675

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722197C= , CM000684.2:g.50722197C=	GRCh38
NC_000022.10:g.51160625C= , CM000684.1:g.51160625C=	GRCh37
NC_000022.9:g.49507491C=	NCBI36
NG_008607.2:g.52843C=
NG_070230.1:g.57981C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3965C=	ENSP00000489147.2:p.Ala1322=
ENST00000414786.7:n.4549C=
ENST00000445220.7:c.3017C=	ENSP00000489407.2:p.Ala1006=
ENST00000664402.2:c.2507C=	ENSP00000499475.1:p.Ala836=
ENST00000673971.2:c.*2963C=	ENSP00000501192.1:n.*2963C=
ENST00000445220.6:c.3017C=	ENSP00000489407.2:p.Ala1006=
ENST00000262795.6:c.3965C=	ENSP00000489147.2:p.Ala1322=
ENST00000664402.1:c.2507C=	ENSP00000499475.1:p.Ala836=
ENST00000673971.1:c.*2963C=	ENSP00000501192.1:n.*2963C=
ENST00000262795.5:c.4361C=	ENSP00000489147.1:p.Ala1454=
ENST00000414786.6:n.4549C=
ENST00000445220.5:c.4343C=	ENSP00000489407.1:p.Ala1448=