Canonical Allele Identifier: CA2411008005

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721060C= , CM000684.2:g.50721060C=	GRCh38
NC_000022.10:g.51159488C= , CM000684.1:g.51159488C=	GRCh37
NC_000022.9:g.49506354C=	NCBI36
NG_008607.2:g.51706C=
NG_070230.1:g.56844C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2828C=	ENSP00000489147.2:p.Ala943=
ENST00000414786.7:n.3412C=
ENST00000445220.7:c.1880C=	ENSP00000489407.2:p.Ala627=
ENST00000664402.2:c.1370C=	ENSP00000499475.1:p.Ala457=
ENST00000673971.2:c.*1826C=	ENSP00000501192.1:n.*1826C=
ENST00000445220.6:c.1880C=	ENSP00000489407.2:p.Ala627=
ENST00000262795.6:c.2828C=	ENSP00000489147.2:p.Ala943=
ENST00000664402.1:c.1370C=	ENSP00000499475.1:p.Ala457=
ENST00000673971.1:c.*1826C=	ENSP00000501192.1:n.*1826C=
ENST00000262795.5:c.3224C=	ENSP00000489147.1:p.Ala1075=
ENST00000414786.6:n.3412C=
ENST00000445220.5:c.3206C=	ENSP00000489407.1:p.Ala1069=