Canonical Allele Identifier: CA929715847

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs1848224656
• gnomAD v3: 10-70601134-AG-A
• gnomAD v4: 10-70601134-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70601138del , CM000672.2:g.70601138del	GRCh38
NC_000010.10:g.72360894del , CM000672.1:g.72360894del	GRCh37
NC_000010.9:g.72030900del	NCBI36
NG_009615.1:g.6641del , LRG_94:g.6641del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+2054del (PALD1)	ENSP00000513342.1:n.*17+2054del
ENST00000697572.1:c.2250+36619del (PALD1)	ENSP00000513343.1:n.2250+36619del
ENST00000697573.1:c.*17+2054del (PALD1)	ENSP00000513344.1:n.*17+2054del
ENST00000697577.1:n.2919+2054del (PALD1)
ENST00000697578.1:n.2763+2054del (PALD1)
ENST00000441259.2:c.-30-203del (PRF1) MANE Select	ENSP00000398568.1:n.-30-203del
ENST00000638674.1:c.-4-229del (PRF1)	ENSP00000492048.1:n.-4-229del
ENST00000639390.1:n.97+1510del (PRF1)
ENST00000373209.2:c.-4-229del (PRF1)	ENSP00000362305.1:n.-4-229del
ENST00000441259.1:c.-30-203del (PRF1)	ENSP00000398568.1:n.-30-203del
NM_001083116.1:c.-30-203del , LRG_94t1:c.-30-203del (PRF1)	NP_001076585.1:n.-30-203del
NM_005041.4:c.-4-229del (PRF1)	NP_005032.2:n.-4-229del
NM_001083116.2:c.-30-203del (PRF1)	NP_001076585.1:n.-30-203del
NM_005041.5:c.-4-229del (PRF1)	NP_005032.2:n.-4-229del
NM_001083116.3:c.-30-203del (PRF1) MANE Select	NP_001076585.1:n.-30-203del
NM_005041.6:c.-4-229del (PRF1)	NP_005032.2:n.-4-229del