Canonical Allele Identifier: CA2411008233

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721427C= , CM000684.2:g.50721427C=	GRCh38
NC_000022.10:g.51159855C= , CM000684.1:g.51159855C=	GRCh37
NC_000022.9:g.49506721C=	NCBI36
NG_008607.2:g.52073C=
NG_070230.1:g.57211C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3195C=	ENSP00000489147.2:p.Val1065=
ENST00000414786.7:n.3779C=
ENST00000445220.7:c.2247C=	ENSP00000489407.2:p.Val749=
ENST00000664402.2:c.1737C=	ENSP00000499475.1:p.Val579=
ENST00000673971.2:c.*2193C=	ENSP00000501192.1:n.*2193C=
ENST00000445220.6:c.2247C=	ENSP00000489407.2:p.Val749=
ENST00000262795.6:c.3195C=	ENSP00000489147.2:p.Val1065=
ENST00000664402.1:c.1737C=	ENSP00000499475.1:p.Val579=
ENST00000673971.1:c.*2193C=	ENSP00000501192.1:n.*2193C=
ENST00000262795.5:c.3591C=	ENSP00000489147.1:p.Val1197=
ENST00000414786.6:n.3779C=
ENST00000445220.5:c.3573C=	ENSP00000489407.1:p.Val1191=