Canonical Allele Identifier: CA2411007709

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720599G= , CM000684.2:g.50720599G=	GRCh38
NC_000022.10:g.51159027G= , CM000684.1:g.51159027G=	GRCh37
NC_000022.9:g.49505893G=	NCBI36
NG_008607.2:g.51245G=
NG_070230.1:g.56383G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2367G=	ENSP00000489147.2:p.Pro789=
ENST00000414786.7:n.2951G=
ENST00000445220.7:c.1419G=	ENSP00000489407.2:p.Pro473=
ENST00000664402.2:c.909G=	ENSP00000499475.1:p.Pro303=
ENST00000673971.2:c.*1365G=	ENSP00000501192.1:n.*1365G=
ENST00000445220.6:c.1419G=	ENSP00000489407.2:p.Pro473=
ENST00000262795.6:c.2367G=	ENSP00000489147.2:p.Pro789=
ENST00000664402.1:c.909G=	ENSP00000499475.1:p.Pro303=
ENST00000673971.1:c.*1365G=	ENSP00000501192.1:n.*1365G=
ENST00000262795.5:c.2763G=	ENSP00000489147.1:p.Pro921=
ENST00000414786.6:n.2951G=
ENST00000445220.5:c.2745G=	ENSP00000489407.1:p.Pro915=