Canonical Allele Identifier: CA2411008178

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721334C= , CM000684.2:g.50721334C=	GRCh38
NC_000022.10:g.51159762C= , CM000684.1:g.51159762C=	GRCh37
NC_000022.9:g.49506628C=	NCBI36
NG_008607.2:g.51980C=
NG_070230.1:g.57118C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3102C=	ENSP00000489147.2:p.Ala1034=
ENST00000414786.7:n.3686C=
ENST00000445220.7:c.2154C=	ENSP00000489407.2:p.Ala718=
ENST00000664402.2:c.1644C=	ENSP00000499475.1:p.Ala548=
ENST00000673971.2:c.*2100C=	ENSP00000501192.1:n.*2100C=
ENST00000445220.6:c.2154C=	ENSP00000489407.2:p.Ala718=
ENST00000262795.6:c.3102C=	ENSP00000489147.2:p.Ala1034=
ENST00000664402.1:c.1644C=	ENSP00000499475.1:p.Ala548=
ENST00000673971.1:c.*2100C=	ENSP00000501192.1:n.*2100C=
ENST00000262795.5:c.3498C=	ENSP00000489147.1:p.Ala1166=
ENST00000414786.6:n.3686C=
ENST00000445220.5:c.3480C=	ENSP00000489407.1:p.Ala1160=