Canonical Allele Identifier: CA16620936
Gene: ADNP HGNC NCBI

Linked Data

ClinVar Variation Id: 423279
ClinVar RCV Id: RCV000484504
dbSNP Id: rs1064796339
MyVariant Identifiers: chr20:g.49510406del (hg19) chr20:g.50893869del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50893871del , CM000682.2:g.50893871del GRCh38
NC_000020.10:g.49510408del , CM000682.1:g.49510408del GRCh37
NC_000020.9:g.48943815del NCBI36
NG_034200.1:g.42122del

Transcript Alleles

HGVS Amino-acid change
ENST00000349014.8:c.845del ENSP00000342905.3:p.Gly282AspfsTer23
ENST00000371602.9:c.845del ENSP00000360662.2:p.Gly282AspfsTer23
ENST00000396029.8:c.845del ENSP00000379346.3:p.Gly282AspfsTer23
ENST00000396032.8:c.845del ENSP00000379349.2:p.Gly282AspfsTer23
ENST00000621696.5:c.845del MANE Select ENSP00000483881.1:p.Gly282AspfsTer23
ENST00000644386.1:c.202-3912del ENSP00000493755.1:n.202-3912del
ENST00000645081.1:c.161del ENSP00000495540.1:p.Gly54AspfsTer23
ENST00000673732.1:c.1061del ENSP00000501294.1:p.Gly354AspfsTer23
ENST00000349014.7:c.845del ENSP00000342905.3:p.Gly282AspfsTer23
ENST00000371602.8:c.845del ENSP00000360662.2:p.Gly282AspfsTer23
ENST00000396029.7:c.845del ENSP00000379346.3:p.Gly282AspfsTer23
ENST00000396032.7:c.845del ENSP00000379349.2:p.Gly282AspfsTer23
ENST00000621696.4:c.845del ENSP00000483881.1:p.Gly282AspfsTer23
NM_001282531.1:c.845del NP_001269460.1:p.Gly282AspfsTer23
NM_001282532.1:c.845del NP_001269461.1:p.Gly282AspfsTer23
NM_015339.3:c.845del NP_056154.1:p.Gly282AspfsTer23
NM_181442.2:c.845del NP_852107.1:p.Gly282AspfsTer23
XM_011528747.1:c.845del XP_011527049.1:p.Gly282AspfsTer23
XM_011528748.1:c.872del XP_011527050.1:p.Gly291AspfsTer23
NM_001282531.2:c.845del NP_001269460.1:p.Gly282AspfsTer23
NM_001347511.1:c.845del NP_001334440.1:p.Gly282AspfsTer23
NM_015339.4:c.845del NP_056154.1:p.Gly282AspfsTer23
NM_181442.3:c.845del NP_852107.1:p.Gly282AspfsTer23
XM_011528747.2:c.845del XP_011527049.1:p.Gly282AspfsTer23
XM_011528748.2:c.872del XP_011527050.1:p.Gly291AspfsTer23
XM_017027758.1:c.845del XP_016883247.1:p.Gly282AspfsTer23
XM_017027759.1:c.845del XP_016883248.1:p.Gly282AspfsTer23
NM_001282531.3:c.845del MANE Select NP_001269460.1:p.Gly282AspfsTer23
NM_001347511.2:c.845del NP_001334440.1:p.Gly282AspfsTer23
NM_015339.5:c.845del NP_056154.1:p.Gly282AspfsTer23
NM_181442.4:c.845del NP_852107.1:p.Gly282AspfsTer23
NM_001282532.2:c.845del NP_001269461.1:p.Gly282AspfsTer23
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