Canonical Allele Identifier: CA2411007736

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720644C= , CM000684.2:g.50720644C=	GRCh38
NC_000022.10:g.51159072C= , CM000684.1:g.51159072C=	GRCh37
NC_000022.9:g.49505938C=	NCBI36
NG_008607.2:g.51290C=
NG_070230.1:g.56428C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2412C=	ENSP00000489147.2:p.Phe804=
ENST00000414786.7:n.2996C=
ENST00000445220.7:c.1464C=	ENSP00000489407.2:p.Phe488=
ENST00000664402.2:c.954C=	ENSP00000499475.1:p.Phe318=
ENST00000673971.2:c.*1410C=	ENSP00000501192.1:n.*1410C=
ENST00000445220.6:c.1464C=	ENSP00000489407.2:p.Phe488=
ENST00000262795.6:c.2412C=	ENSP00000489147.2:p.Phe804=
ENST00000664402.1:c.954C=	ENSP00000499475.1:p.Phe318=
ENST00000673971.1:c.*1410C=	ENSP00000501192.1:n.*1410C=
ENST00000262795.5:c.2808C=	ENSP00000489147.1:p.Phe936=
ENST00000414786.6:n.2996C=
ENST00000445220.5:c.2790C=	ENSP00000489407.1:p.Phe930=