Canonical Allele Identifier: CA256955
Gene: PALD1 HGNC NCBI
PRF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13722
ClinVar RCV Id: RCV000014725 RCV003460477
dbSNP Id: rs786205093
gnomAD v3: 10-70600695-CG-C
gnomAD v4: 10-70600695-CG-C
MyVariant Identifiers: chr10:g.72360452del (hg19) chr10:g.70600696del (hg38)
PubMed: PMID:12716377
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70600698del , CM000672.2:g.70600698del GRCh38
NC_000010.10:g.72360454del , CM000672.1:g.72360454del GRCh37
NC_000010.9:g.72030460del NCBI36
NG_009615.1:g.7080del , LRG_94:g.7080del

Transcript Alleles

HGVS Amino-acid change
ENST00000697571.1:c.*17+1614del (PALD1) ENSP00000513342.1:n.*17+1614del
ENST00000697572.1:c.2250+36179del (PALD1) ENSP00000513343.1:n.2250+36179del
ENST00000697573.1:c.*17+1614del (PALD1) ENSP00000513344.1:n.*17+1614del
ENST00000697577.1:n.2919+1614del (PALD1)
ENST00000697578.1:n.2763+1614del (PALD1)
ENST00000441259.2:c.207del (PRF1) MANE Select ENSP00000398568.1:p.Asp70ThrfsTer?
ENST00000638674.1:c.207del (PRF1) ENSP00000492048.1:p.Asp70ThrfsTer?
ENST00000639390.1:n.97+1949del (PRF1)
ENST00000373209.2:c.207del (PRF1) ENSP00000362305.1:p.Asp70ThrfsTer?
ENST00000441259.1:c.207del (PRF1) ENSP00000398568.1:p.Asp70ThrfsTer?
NM_001083116.1:c.207del , LRG_94t1:c.207del (PRF1) NP_001076585.1:p.Asp70ThrfsTer?
NM_005041.4:c.207del (PRF1) NP_005032.2:p.Asp70ThrfsTer?
NM_001083116.2:c.207del (PRF1) NP_001076585.1:p.Asp70ThrfsTer?
NM_005041.5:c.207del (PRF1) NP_005032.2:p.Asp70ThrfsTer?
NM_001083116.3:c.207del (PRF1) MANE Select NP_001076585.1:p.Asp70ThrfsTer?
NM_005041.6:c.207del (PRF1) NP_005032.2:p.Asp70ThrfsTer?
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