Canonical Allele Identifier: CA2411008426

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721737G= , CM000684.2:g.50721737G=	GRCh38
NC_000022.10:g.51160165G= , CM000684.1:g.51160165G=	GRCh37
NC_000022.9:g.49507031G=	NCBI36
NG_008607.2:g.52383G=
NG_070230.1:g.57521G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3505G=	ENSP00000489147.2:p.Ala1169=
ENST00000414786.7:n.4089G=
ENST00000445220.7:c.2557G=	ENSP00000489407.2:p.Ala853=
ENST00000664402.2:c.2047G=	ENSP00000499475.1:p.Ala683=
ENST00000673971.2:c.*2503G=	ENSP00000501192.1:n.*2503G=
ENST00000445220.6:c.2557G=	ENSP00000489407.2:p.Ala853=
ENST00000262795.6:c.3505G=	ENSP00000489147.2:p.Ala1169=
ENST00000664402.1:c.2047G=	ENSP00000499475.1:p.Ala683=
ENST00000673971.1:c.*2503G=	ENSP00000501192.1:n.*2503G=
ENST00000262795.5:c.3901G=	ENSP00000489147.1:p.Ala1301=
ENST00000414786.6:n.4089G=
ENST00000445220.5:c.3883G=	ENSP00000489407.1:p.Ala1295=