Canonical Allele Identifier: CA2411008113

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721242G= , CM000684.2:g.50721242G=	GRCh38
NC_000022.10:g.51159670G= , CM000684.1:g.51159670G=	GRCh37
NC_000022.9:g.49506536G=	NCBI36
NG_008607.2:g.51888G=
NG_070230.1:g.57026G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3010G=	ENSP00000489147.2:p.Asp1004=
ENST00000414786.7:n.3594G=
ENST00000445220.7:c.2062G=	ENSP00000489407.2:p.Asp688=
ENST00000664402.2:c.1552G=	ENSP00000499475.1:p.Asp518=
ENST00000673971.2:c.*2008G=	ENSP00000501192.1:n.*2008G=
ENST00000445220.6:c.2062G=	ENSP00000489407.2:p.Asp688=
ENST00000262795.6:c.3010G=	ENSP00000489147.2:p.Asp1004=
ENST00000664402.1:c.1552G=	ENSP00000499475.1:p.Asp518=
ENST00000673971.1:c.*2008G=	ENSP00000501192.1:n.*2008G=
ENST00000262795.5:c.3406G=	ENSP00000489147.1:p.Asp1136=
ENST00000414786.6:n.3594G=
ENST00000445220.5:c.3388G=	ENSP00000489407.1:p.Asp1130=