Canonical Allele Identifier: CA2609519660

Gene: PALD1 PRF1

Linked Data

• gnomAD v4: 10-70599156-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70599157del , CM000672.2:g.70599157del	GRCh38
NC_000010.10:g.72358913del , CM000672.1:g.72358913del	GRCh37
NC_000010.9:g.72028919del	NCBI36
NG_009615.1:g.8619del , LRG_94:g.8619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+73del (PALD1)	ENSP00000513342.1:n.*17+73del
ENST00000697572.1:c.2250+34638del (PALD1)	ENSP00000513343.1:n.2250+34638del
ENST00000697573.1:c.*17+73del (PALD1)	ENSP00000513344.1:n.*17+73del
ENST00000697577.1:n.2919+73del (PALD1)
ENST00000697578.1:n.2763+73del (PALD1)
ENST00000441259.2:c.564del (PRF1) MANE Select	ENSP00000398568.1:p.Leu189CysfsTer?
ENST00000638674.1:c.539+1207del (PRF1)	ENSP00000492048.1:n.539+1207del
ENST00000639390.1:n.98-1316del (PRF1)
ENST00000373209.2:c.564del (PRF1)	ENSP00000362305.1:p.Leu189CysfsTer?
ENST00000441259.1:c.564del (PRF1)	ENSP00000398568.1:p.Leu189CysfsTer?
NM_001083116.1:c.564del , LRG_94t1:c.564del (PRF1)	NP_001076585.1:p.Leu189CysfsTer?
NM_005041.4:c.564del (PRF1)	NP_005032.2:p.Leu189CysfsTer?
NM_001083116.2:c.564del (PRF1)	NP_001076585.1:p.Leu189CysfsTer?
NM_005041.5:c.564del (PRF1)	NP_005032.2:p.Leu189CysfsTer?
NM_001083116.3:c.564del (PRF1) MANE Select	NP_001076585.1:p.Leu189CysfsTer?
NM_005041.6:c.564del (PRF1)	NP_005032.2:p.Leu189CysfsTer?