Canonical Allele Identifier: CA2411007948

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720970C= , CM000684.2:g.50720970C=	GRCh38
NC_000022.10:g.51159398C= , CM000684.1:g.51159398C=	GRCh37
NC_000022.9:g.49506264C=	NCBI36
NG_008607.2:g.51616C=
NG_070230.1:g.56754C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2738C=	ENSP00000489147.2:p.Ser913=
ENST00000414786.7:n.3322C=
ENST00000445220.7:c.1790C=	ENSP00000489407.2:p.Ser597=
ENST00000664402.2:c.1280C=	ENSP00000499475.1:p.Ser427=
ENST00000673971.2:c.*1736C=	ENSP00000501192.1:n.*1736C=
ENST00000445220.6:c.1790C=	ENSP00000489407.2:p.Ser597=
ENST00000262795.6:c.2738C=	ENSP00000489147.2:p.Ser913=
ENST00000664402.1:c.1280C=	ENSP00000499475.1:p.Ser427=
ENST00000673971.1:c.*1736C=	ENSP00000501192.1:n.*1736C=
ENST00000262795.5:c.3134C=	ENSP00000489147.1:p.Ser1045=
ENST00000414786.6:n.3322C=
ENST00000445220.5:c.3116C=	ENSP00000489407.1:p.Ser1039=