Canonical Allele Identifier: CA9908746
Community Standard Title: NM_001282531.3(ADNP):c.1230_1232del (p.Ser411del)
Gene: ADNP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50893483_50893485del , CM000682.2:g.50893483_50893485del GRCh38
NC_000020.10:g.49510020_49510022del , CM000682.1:g.49510020_49510022del GRCh37
NC_000020.9:g.48943427_48943429del NCBI36
NG_034200.1:g.42507_42509del

Transcript Alleles

HGVS Amino-acid Change
NM_001282531.3:c.1230_1232del MANE Select NP_001269460.1:p.Ser411del
ENST00000621696.5:c.1230_1232del MANE Select ENSP00000483881.1:p.Ser411del
NM_001282531.1:c.1230_1232del NP_001269460.1:p.Ser411del
NM_001282531.2:c.1230_1232del NP_001269460.1:p.Ser411del
NM_001282532.1:c.1230_1232del NP_001269461.1:p.Ser411del
NM_001282532.2:c.1230_1232del NP_001269461.1:p.Ser411del
NM_001347511.1:c.1230_1232del NP_001334440.1:p.Ser411del
NM_001347511.2:c.1230_1232del NP_001334440.1:p.Ser411del
NM_015339.3:c.1230_1232del NP_056154.1:p.Ser411del
NM_015339.4:c.1230_1232del NP_056154.1:p.Ser411del
NM_015339.5:c.1230_1232del NP_056154.1:p.Ser411del
NM_181442.2:c.1230_1232del NP_852107.1:p.Ser411del
NM_181442.3:c.1230_1232del NP_852107.1:p.Ser411del
NM_181442.4:c.1230_1232del NP_852107.1:p.Ser411del
ENST00000349014.7:c.1230_1232del ENSP00000342905.3:p.Ser411del
ENST00000349014.8:c.1230_1232del ENSP00000342905.3:p.Ser411del
ENST00000371602.8:c.1230_1232del ENSP00000360662.2:p.Ser411del
ENST00000371602.9:c.1230_1232del ENSP00000360662.2:p.Ser411del
ENST00000396029.7:c.1230_1232del ENSP00000379346.3:p.Ser411del
ENST00000396029.8:c.1230_1232del ENSP00000379346.3:p.Ser411del
ENST00000396032.7:c.1230_1232del ENSP00000379349.2:p.Ser411del
ENST00000396032.8:c.1230_1232del ENSP00000379349.2:p.Ser411del
ENST00000621696.4:c.1230_1232del ENSP00000483881.1:p.Ser411del
ENST00000644386.1:c.202-3527_202-3525del ENSP00000493755.1:n.202-3527_202-3525del
ENST00000645081.1:c.546_548del ENSP00000495540.1:p.Ser183del
ENST00000673732.1:c.1446_1448del ENSP00000501294.1:p.Ser483del
XM_011528747.1:c.1230_1232del XP_011527049.1:p.Ser411del
XM_011528747.2:c.1230_1232del XP_011527049.1:p.Ser411del
XM_011528748.1:c.1257_1259del XP_011527050.1:p.Ser420del
XM_011528748.2:c.1257_1259del XP_011527050.1:p.Ser420del
XM_017027758.1:c.1230_1232del XP_016883247.1:p.Ser411del
XM_017027759.1:c.1230_1232del XP_016883248.1:p.Ser411del