Canonical Allele Identifier: CA2411008198

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721374C= , CM000684.2:g.50721374C=	GRCh38
NC_000022.10:g.51159802C= , CM000684.1:g.51159802C=	GRCh37
NC_000022.9:g.49506668C=	NCBI36
NG_008607.2:g.52020C=
NG_070230.1:g.57158C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3142C=	ENSP00000489147.2:p.Pro1048=
ENST00000414786.7:n.3726C=
ENST00000445220.7:c.2194C=	ENSP00000489407.2:p.Pro732=
ENST00000664402.2:c.1684C=	ENSP00000499475.1:p.Pro562=
ENST00000673971.2:c.*2140C=	ENSP00000501192.1:n.*2140C=
ENST00000445220.6:c.2194C=	ENSP00000489407.2:p.Pro732=
ENST00000262795.6:c.3142C=	ENSP00000489147.2:p.Pro1048=
ENST00000664402.1:c.1684C=	ENSP00000499475.1:p.Pro562=
ENST00000673971.1:c.*2140C=	ENSP00000501192.1:n.*2140C=
ENST00000262795.5:c.3538C=	ENSP00000489147.1:p.Pro1180=
ENST00000414786.6:n.3726C=
ENST00000445220.5:c.3520C=	ENSP00000489407.1:p.Pro1174=