Canonical Allele Identifier: CA2411008290

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721509G= , CM000684.2:g.50721509G=	GRCh38
NC_000022.10:g.51159937G= , CM000684.1:g.51159937G=	GRCh37
NC_000022.9:g.49506803G=	NCBI36
NG_008607.2:g.52155G=
NG_070230.1:g.57293G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3277G=	ENSP00000489147.2:p.Gly1093=
ENST00000414786.7:n.3861G=
ENST00000445220.7:c.2329G=	ENSP00000489407.2:p.Gly777=
ENST00000664402.2:c.1819G=	ENSP00000499475.1:p.Gly607=
ENST00000673971.2:c.*2275G=	ENSP00000501192.1:n.*2275G=
ENST00000445220.6:c.2329G=	ENSP00000489407.2:p.Gly777=
ENST00000262795.6:c.3277G=	ENSP00000489147.2:p.Gly1093=
ENST00000664402.1:c.1819G=	ENSP00000499475.1:p.Gly607=
ENST00000673971.1:c.*2275G=	ENSP00000501192.1:n.*2275G=
ENST00000262795.5:c.3673G=	ENSP00000489147.1:p.Gly1225=
ENST00000414786.6:n.3861G=
ENST00000445220.5:c.3655G=	ENSP00000489407.1:p.Gly1219=