Canonical Allele Identifier: CA929715786

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs1848223853
• gnomAD v3: 10-70601045-AAT-A
• gnomAD v4: 10-70601045-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70601046_70601047del , CM000672.2:g.70601046_70601047del	GRCh38
NC_000010.10:g.72360802_72360803del , CM000672.1:g.72360802_72360803del	GRCh37
NC_000010.9:g.72030808_72030809del	NCBI36
NG_009615.1:g.6729_6730del , LRG_94:g.6729_6730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1962_*17+1963del (PALD1)	ENSP00000513342.1:n.*17+1962_*17+1963del
ENST00000697572.1:c.2250+36527_2250+36528del (PALD1)	ENSP00000513343.1:n.2250+36527_2250+36528del
ENST00000697573.1:c.*17+1962_*17+1963del (PALD1)	ENSP00000513344.1:n.*17+1962_*17+1963del
ENST00000697577.1:n.2919+1962_2919+1963del (PALD1)
ENST00000697578.1:n.2763+1962_2763+1963del (PALD1)
ENST00000441259.2:c.-30-115_-30-114del (PRF1) MANE Select	ENSP00000398568.1:n.-30-115_-30-114del
ENST00000638674.1:c.-4-141_-4-140del (PRF1)	ENSP00000492048.1:n.-4-141_-4-140del
ENST00000639390.1:n.97+1598_97+1599del (PRF1)
ENST00000373209.2:c.-4-141_-4-140del (PRF1)	ENSP00000362305.1:n.-4-141_-4-140del
ENST00000441259.1:c.-30-115_-30-114del (PRF1)	ENSP00000398568.1:n.-30-115_-30-114del
NM_001083116.1:c.-30-115_-30-114del , LRG_94t1:c.-30-115_-30-114del (PRF1)	NP_001076585.1:n.-30-115_-30-114del
NM_005041.4:c.-4-141_-4-140del (PRF1)	NP_005032.2:n.-4-141_-4-140del
NM_001083116.2:c.-30-115_-30-114del (PRF1)	NP_001076585.1:n.-30-115_-30-114del
NM_005041.5:c.-4-141_-4-140del (PRF1)	NP_005032.2:n.-4-141_-4-140del
NM_001083116.3:c.-30-115_-30-114del (PRF1) MANE Select	NP_001076585.1:n.-30-115_-30-114del
NM_005041.6:c.-4-141_-4-140del (PRF1)	NP_005032.2:n.-4-141_-4-140del