Canonical Allele Identifier: CA2411008475

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721811G= , CM000684.2:g.50721811G=	GRCh38
NC_000022.10:g.51160239G= , CM000684.1:g.51160239G=	GRCh37
NC_000022.9:g.49507105G=	NCBI36
NG_008607.2:g.52457G=
NG_070230.1:g.57595G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3579G=	ENSP00000489147.2:p.Pro1193=
ENST00000414786.7:n.4163G=
ENST00000445220.7:c.2631G=	ENSP00000489407.2:p.Pro877=
ENST00000664402.2:c.2121G=	ENSP00000499475.1:p.Pro707=
ENST00000673971.2:c.*2577G=	ENSP00000501192.1:n.*2577G=
ENST00000445220.6:c.2631G=	ENSP00000489407.2:p.Pro877=
ENST00000262795.6:c.3579G=	ENSP00000489147.2:p.Pro1193=
ENST00000664402.1:c.2121G=	ENSP00000499475.1:p.Pro707=
ENST00000673971.1:c.*2577G=	ENSP00000501192.1:n.*2577G=
ENST00000262795.5:c.3975G=	ENSP00000489147.1:p.Pro1325=
ENST00000414786.6:n.4163G=
ENST00000445220.5:c.3957G=	ENSP00000489407.1:p.Pro1319=