Canonical Allele Identifier: CA2411008505

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721870C= , CM000684.2:g.50721870C=	GRCh38
NC_000022.10:g.51160298C= , CM000684.1:g.51160298C=	GRCh37
NC_000022.9:g.49507164C=	NCBI36
NG_008607.2:g.52516C=
NG_070230.1:g.57654C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3638C=	ENSP00000489147.2:p.Pro1213=
ENST00000414786.7:n.4222C=
ENST00000445220.7:c.2690C=	ENSP00000489407.2:p.Pro897=
ENST00000664402.2:c.2180C=	ENSP00000499475.1:p.Pro727=
ENST00000673971.2:c.*2636C=	ENSP00000501192.1:n.*2636C=
ENST00000445220.6:c.2690C=	ENSP00000489407.2:p.Pro897=
ENST00000262795.6:c.3638C=	ENSP00000489147.2:p.Pro1213=
ENST00000664402.1:c.2180C=	ENSP00000499475.1:p.Pro727=
ENST00000673971.1:c.*2636C=	ENSP00000501192.1:n.*2636C=
ENST00000262795.5:c.4034C=	ENSP00000489147.1:p.Pro1345=
ENST00000414786.6:n.4222C=
ENST00000445220.5:c.4016C=	ENSP00000489407.1:p.Pro1339=