Canonical Allele Identifier: CA2411008011

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721070G= , CM000684.2:g.50721070G=	GRCh38
NC_000022.10:g.51159498G= , CM000684.1:g.51159498G=	GRCh37
NC_000022.9:g.49506364G=	NCBI36
NG_008607.2:g.51716G=
NG_070230.1:g.56854G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2838G=	ENSP00000489147.2:p.Pro946=
ENST00000414786.7:n.3422G=
ENST00000445220.7:c.1890G=	ENSP00000489407.2:p.Pro630=
ENST00000664402.2:c.1380G=	ENSP00000499475.1:p.Pro460=
ENST00000673971.2:c.*1836G=	ENSP00000501192.1:n.*1836G=
ENST00000445220.6:c.1890G=	ENSP00000489407.2:p.Pro630=
ENST00000262795.6:c.2838G=	ENSP00000489147.2:p.Pro946=
ENST00000664402.1:c.1380G=	ENSP00000499475.1:p.Pro460=
ENST00000673971.1:c.*1836G=	ENSP00000501192.1:n.*1836G=
ENST00000262795.5:c.3234G=	ENSP00000489147.1:p.Pro1078=
ENST00000414786.6:n.3422G=
ENST00000445220.5:c.3216G=	ENSP00000489407.1:p.Pro1072=