Canonical Allele Identifier: CA2410995395
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697657G= , CM000684.2:g.50697657G= GRCh38
NC_000022.10:g.51136085G= , CM000684.1:g.51136085G= GRCh37
NC_000022.9:g.49482951G= NCBI36
NG_008607.2:g.28303G=
NG_070230.1:g.33522G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.1041G= ENSP00000489147.2:p.Lys347=
ENST00000414786.7:n.1625G=
ENST00000445220.7:c.93G= ENSP00000489407.2:p.Lys31=
ENST00000673971.2:c.1398G= ENSP00000501192.1:p.Lys466=
ENST00000445220.6:c.93G= ENSP00000489407.2:p.Lys31=
ENST00000262795.6:c.1041G= ENSP00000489147.2:p.Lys347=
ENST00000673971.1:c.1398G= ENSP00000501192.1:p.Lys466=
ENST00000673995.1:c.94G=
ENST00000262795.5:c.1437G= ENSP00000489147.1:p.Lys479=
ENST00000414786.6:n.1625G=
ENST00000445220.5:c.1419G= ENSP00000489407.1:p.Lys473=