Canonical Allele Identifier: CA658797433

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 523032
• ClinVar RCV Id: RCV000626236
• dbSNP Id: rs1554867753
• MyVariant Identifiers: chr10:g.72358302del (hg19) ; chr10:g.70598546del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598548del , CM000672.2:g.70598548del	GRCh38
NC_000010.10:g.72358304del , CM000672.1:g.72358304del	GRCh37
NC_000010.9:g.72028310del	NCBI36
NG_009615.1:g.9230del , LRG_94:g.9230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-340del (PALD1)	ENSP00000513342.1:n.2419-340del
ENST00000697572.1:c.2250+34029del (PALD1)	ENSP00000513343.1:n.2250+34029del
ENST00000697573.1:c.2263-340del (PALD1)	ENSP00000513344.1:n.2263-340del
ENST00000697577.1:n.2723-340del (PALD1)
ENST00000697578.1:n.2567-340del (PALD1)
ENST00000441259.2:c.1175del (PRF1) MANE Select	ENSP00000398568.1:p.Pro392HisfsTer28
ENST00000638674.1:c.540-705del (PRF1)	ENSP00000492048.1:n.540-705del
ENST00000639390.1:n.98-705del (PRF1)
ENST00000373209.2:c.1175del (PRF1)	ENSP00000362305.1:p.Pro392HisfsTer28
ENST00000441259.1:c.1175del (PRF1)	ENSP00000398568.1:p.Pro392HisfsTer28
NM_001083116.1:c.1175del , LRG_94t1:c.1175del (PRF1)	NP_001076585.1:p.Pro392HisfsTer28
NM_005041.4:c.1175del (PRF1)	NP_005032.2:p.Pro392HisfsTer28
NM_001083116.2:c.1175del (PRF1)	NP_001076585.1:p.Pro392HisfsTer28
NM_005041.5:c.1175del (PRF1)	NP_005032.2:p.Pro392HisfsTer28
NM_001083116.3:c.1175del (PRF1) MANE Select	NP_001076585.1:p.Pro392HisfsTer28
NM_005041.6:c.1175del (PRF1)	NP_005032.2:p.Pro392HisfsTer28