Canonical Allele Identifier: CA2410995290
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697529G= , CM000684.2:g.50697529G= GRCh38
NC_000022.10:g.51135957G= , CM000684.1:g.51135957G= GRCh37
NC_000022.9:g.49482823G= NCBI36
NG_008607.2:g.27888G=
NG_070230.1:g.33107G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-35G= ENSP00000489147.2:n.948-35G=
ENST00000414786.7:n.1532-35G=
ENST00000673971.2:c.1305-35G= ENSP00000501192.1:n.1305-35G=
ENST00000262795.6:c.948-35G= ENSP00000489147.2:n.948-35G=
ENST00000673971.1:c.1305-35G= ENSP00000501192.1:n.1305-35G=
ENST00000262795.5:c.1345-36G= ENSP00000489147.1:n.1345-36G=
ENST00000414786.6:n.1532-35G=
ENST00000445220.5:c.1326-35G= ENSP00000489407.1:n.1326-35G=