Canonical Allele Identifier: CA2609519410

Gene: PALD1 PRF1

Linked Data

• gnomAD v4: 10-70598942-ACAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598946_70598949del , CM000672.2:g.70598946_70598949del	GRCh38
NC_000010.10:g.72358702_72358705del , CM000672.1:g.72358702_72358705del	GRCh37
NC_000010.9:g.72028708_72028711del	NCBI36
NG_009615.1:g.8830_8833del , LRG_94:g.8830_8833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2477_2480del (PALD1)	ENSP00000513342.1:p.Val826GlyfsTer9
ENST00000697572.1:c.2250+34427_2250+34430del (PALD1)	ENSP00000513343.1:n.2250+34427_2250+34430del
ENST00000697573.1:c.2321_2324del (PALD1)	ENSP00000513344.1:p.Val774GlyfsTer9
ENST00000697577.1:n.2781_2784del (PALD1)
ENST00000697578.1:n.2625_2628del (PALD1)
ENST00000441259.2:c.775_778del (PRF1) MANE Select	ENSP00000398568.1:p.Thr259SerfsTer7
ENST00000638674.1:c.540-1105_540-1102del (PRF1)	ENSP00000492048.1:n.540-1105_540-1102del
ENST00000639390.1:n.98-1105_98-1102del (PRF1)
ENST00000373209.2:c.775_778del (PRF1)	ENSP00000362305.1:p.Thr259SerfsTer7
ENST00000441259.1:c.775_778del (PRF1)	ENSP00000398568.1:p.Thr259SerfsTer7
NM_001083116.1:c.775_778del , LRG_94t1:c.775_778del (PRF1)	NP_001076585.1:p.Thr259SerfsTer7
NM_005041.4:c.775_778del (PRF1)	NP_005032.2:p.Thr259SerfsTer7
NM_001083116.2:c.775_778del (PRF1)	NP_001076585.1:p.Thr259SerfsTer7
NM_005041.5:c.775_778del (PRF1)	NP_005032.2:p.Thr259SerfsTer7
NM_001083116.3:c.775_778del (PRF1) MANE Select	NP_001076585.1:p.Thr259SerfsTer7
NM_005041.6:c.775_778del (PRF1)	NP_005032.2:p.Thr259SerfsTer7