Canonical Allele Identifier: CA2411008528
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721908G= , CM000684.2:g.50721908G= GRCh38
NC_000022.10:g.51160336G= , CM000684.1:g.51160336G= GRCh37
NC_000022.9:g.49507202G= NCBI36
NG_008607.2:g.52554G=
NG_070230.1:g.57692G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.3676G= ENSP00000489147.2:p.Glu1226=
ENST00000414786.7:n.4260G=
ENST00000445220.7:c.2728G= ENSP00000489407.2:p.Glu910=
ENST00000664402.2:c.2218G= ENSP00000499475.1:p.Glu740=
ENST00000673971.2:c.*2674G= ENSP00000501192.1:n.*2674G=
ENST00000445220.6:c.2728G= ENSP00000489407.2:p.Glu910=
ENST00000262795.6:c.3676G= ENSP00000489147.2:p.Glu1226=
ENST00000664402.1:c.2218G= ENSP00000499475.1:p.Glu740=
ENST00000673971.1:c.*2674G= ENSP00000501192.1:n.*2674G=
ENST00000262795.5:c.4072G= ENSP00000489147.1:p.Glu1358=
ENST00000414786.6:n.4260G=
ENST00000445220.5:c.4054G= ENSP00000489407.1:p.Glu1352=