Canonical Allele Identifier: CA16043605
Gene: ADNP HGNC NCBI

Linked Data

ClinVar Variation Id: 374212
ClinVar RCV Id: RCV000414810
dbSNP Id: rs1057518978

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50892398dup , CM000682.2:g.50892398dup GRCh38
NC_000020.10:g.49508935dup , CM000682.1:g.49508935dup GRCh37
NC_000020.9:g.48942342dup NCBI36
NG_034200.1:g.43595dup

Transcript Alleles

HGVS Amino-acid change
ENST00000349014.8:c.2318dup ENSP00000342905.3:p.Tyr774ValfsTer14
ENST00000371602.9:c.2318dup ENSP00000360662.2:p.Tyr774ValfsTer14
ENST00000396029.8:c.2318dup ENSP00000379346.3:p.Tyr774ValfsTer14
ENST00000396032.8:c.2318dup ENSP00000379349.2:p.Tyr774ValfsTer14
ENST00000621696.5:c.2318dup MANE Select ENSP00000483881.1:p.Tyr774ValfsTer14
ENST00000644386.1:c.202-2439dup ENSP00000493755.1:n.202-2439dup
ENST00000645081.1:c.1634dup ENSP00000495540.1:p.Tyr546ValfsTer14
ENST00000673732.1:c.2534dup ENSP00000501294.1:p.Tyr846ValfsTer14
ENST00000349014.7:c.2318dup ENSP00000342905.3:p.Tyr774ValfsTer14
ENST00000371602.8:c.2318dup ENSP00000360662.2:p.Tyr774ValfsTer14
ENST00000396029.7:c.2318dup ENSP00000379346.3:p.Tyr774ValfsTer14
ENST00000396032.7:c.2318dup ENSP00000379349.2:p.Tyr774ValfsTer14
ENST00000621696.4:c.2318dup ENSP00000483881.1:p.Tyr774ValfsTer14
NM_001282531.1:c.2318dup NP_001269460.1:p.Tyr774ValfsTer14
NM_001282532.1:c.2318dup NP_001269461.1:p.Tyr774ValfsTer14
NM_015339.3:c.2318dup NP_056154.1:p.Tyr774ValfsTer14
NM_181442.2:c.2318dup NP_852107.1:p.Tyr774ValfsTer14
XM_011528747.1:c.2318dup XP_011527049.1:p.Tyr774ValfsTer14
XM_011528748.1:c.2345dup XP_011527050.1:p.Tyr783ValfsTer14
NM_001282531.2:c.2318dup NP_001269460.1:p.Tyr774ValfsTer14
NM_001347511.1:c.2318dup NP_001334440.1:p.Tyr774ValfsTer14
NM_015339.4:c.2318dup NP_056154.1:p.Tyr774ValfsTer14
NM_181442.3:c.2318dup NP_852107.1:p.Tyr774ValfsTer14
XM_011528747.2:c.2318dup XP_011527049.1:p.Tyr774ValfsTer14
XM_011528748.2:c.2345dup XP_011527050.1:p.Tyr783ValfsTer14
XM_017027758.1:c.2318dup XP_016883247.1:p.Tyr774ValfsTer14
XM_017027759.1:c.2318dup XP_016883248.1:p.Tyr774ValfsTer14
NM_001282531.3:c.2318dup MANE Select NP_001269460.1:p.Tyr774ValfsTer14
NM_001347511.2:c.2318dup NP_001334440.1:p.Tyr774ValfsTer14
NM_015339.5:c.2318dup NP_056154.1:p.Tyr774ValfsTer14
NM_181442.4:c.2318dup NP_852107.1:p.Tyr774ValfsTer14
NM_001282532.2:c.2318dup NP_001269461.1:p.Tyr774ValfsTer14