Canonical Allele Identifier: CA2411007725

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720623C= , CM000684.2:g.50720623C=	GRCh38
NC_000022.10:g.51159051C= , CM000684.1:g.51159051C=	GRCh37
NC_000022.9:g.49505917C=	NCBI36
NG_008607.2:g.51269C=
NG_070230.1:g.56407C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2391C=	ENSP00000489147.2:p.Pro797=
ENST00000414786.7:n.2975C=
ENST00000445220.7:c.1443C=	ENSP00000489407.2:p.Pro481=
ENST00000664402.2:c.933C=	ENSP00000499475.1:p.Pro311=
ENST00000673971.2:c.*1389C=	ENSP00000501192.1:n.*1389C=
ENST00000445220.6:c.1443C=	ENSP00000489407.2:p.Pro481=
ENST00000262795.6:c.2391C=	ENSP00000489147.2:p.Pro797=
ENST00000664402.1:c.933C=	ENSP00000499475.1:p.Pro311=
ENST00000673971.1:c.*1389C=	ENSP00000501192.1:n.*1389C=
ENST00000262795.5:c.2787C=	ENSP00000489147.1:p.Pro929=
ENST00000414786.6:n.2975C=
ENST00000445220.5:c.2769C=	ENSP00000489407.1:p.Pro923=