Canonical Allele Identifier: CA2411008154

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721299C= , CM000684.2:g.50721299C=	GRCh38
NC_000022.10:g.51159727C= , CM000684.1:g.51159727C=	GRCh37
NC_000022.9:g.49506593C=	NCBI36
NG_008607.2:g.51945C=
NG_070230.1:g.57083C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3067C=	ENSP00000489147.2:p.Leu1023=
ENST00000414786.7:n.3651C=
ENST00000445220.7:c.2119C=	ENSP00000489407.2:p.Leu707=
ENST00000664402.2:c.1609C=	ENSP00000499475.1:p.Leu537=
ENST00000673971.2:c.*2065C=	ENSP00000501192.1:n.*2065C=
ENST00000445220.6:c.2119C=	ENSP00000489407.2:p.Leu707=
ENST00000262795.6:c.3067C=	ENSP00000489147.2:p.Leu1023=
ENST00000664402.1:c.1609C=	ENSP00000499475.1:p.Leu537=
ENST00000673971.1:c.*2065C=	ENSP00000501192.1:n.*2065C=
ENST00000262795.5:c.3463C=	ENSP00000489147.1:p.Leu1155=
ENST00000414786.6:n.3651C=
ENST00000445220.5:c.3445C=	ENSP00000489407.1:p.Leu1149=