Canonical Allele Identifier: CA2411008013

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721073G= , CM000684.2:g.50721073G=	GRCh38
NC_000022.10:g.51159501G= , CM000684.1:g.51159501G=	GRCh37
NC_000022.9:g.49506367G=	NCBI36
NG_008607.2:g.51719G=
NG_070230.1:g.56857G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2841G=	ENSP00000489147.2:p.Leu947=
ENST00000414786.7:n.3425G=
ENST00000445220.7:c.1893G=	ENSP00000489407.2:p.Leu631=
ENST00000664402.2:c.1383G=	ENSP00000499475.1:p.Leu461=
ENST00000673971.2:c.*1839G=	ENSP00000501192.1:n.*1839G=
ENST00000445220.6:c.1893G=	ENSP00000489407.2:p.Leu631=
ENST00000262795.6:c.2841G=	ENSP00000489147.2:p.Leu947=
ENST00000664402.1:c.1383G=	ENSP00000499475.1:p.Leu461=
ENST00000673971.1:c.*1839G=	ENSP00000501192.1:n.*1839G=
ENST00000262795.5:c.3237G=	ENSP00000489147.1:p.Leu1079=
ENST00000414786.6:n.3425G=
ENST00000445220.5:c.3219G=	ENSP00000489407.1:p.Leu1073=