Canonical Allele Identifier: CA2411007746

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720663C= , CM000684.2:g.50720663C=	GRCh38
NC_000022.10:g.51159091C= , CM000684.1:g.51159091C=	GRCh37
NC_000022.9:g.49505957C=	NCBI36
NG_008607.2:g.51309C=
NG_070230.1:g.56447C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2431C=	ENSP00000489147.2:p.Pro811=
ENST00000414786.7:n.3015C=
ENST00000445220.7:c.1483C=	ENSP00000489407.2:p.Pro495=
ENST00000664402.2:c.973C=	ENSP00000499475.1:p.Pro325=
ENST00000673971.2:c.*1429C=	ENSP00000501192.1:n.*1429C=
ENST00000445220.6:c.1483C=	ENSP00000489407.2:p.Pro495=
ENST00000262795.6:c.2431C=	ENSP00000489147.2:p.Pro811=
ENST00000664402.1:c.973C=	ENSP00000499475.1:p.Pro325=
ENST00000673971.1:c.*1429C=	ENSP00000501192.1:n.*1429C=
ENST00000262795.5:c.2827C=	ENSP00000489147.1:p.Pro943=
ENST00000414786.6:n.3015C=
ENST00000445220.5:c.2809C=	ENSP00000489407.1:p.Pro937=