Canonical Allele Identifier: CA929715784

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs1848223815
• gnomAD v3: 10-70601041-ATTC-A
• gnomAD v4: 10-70601041-ATTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70601042_70601044del , CM000672.2:g.70601042_70601044del	GRCh38
NC_000010.10:g.72360798_72360800del , CM000672.1:g.72360798_72360800del	GRCh37
NC_000010.9:g.72030804_72030806del	NCBI36
NG_009615.1:g.6732_6734del , LRG_94:g.6732_6734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1958_*17+1960del (PALD1)	ENSP00000513342.1:n.*17+1958_*17+1960del
ENST00000697572.1:c.2250+36523_2250+36525del (PALD1)	ENSP00000513343.1:n.2250+36523_2250+36525del
ENST00000697573.1:c.*17+1958_*17+1960del (PALD1)	ENSP00000513344.1:n.*17+1958_*17+1960del
ENST00000697577.1:n.2919+1958_2919+1960del (PALD1)
ENST00000697578.1:n.2763+1958_2763+1960del (PALD1)
ENST00000441259.2:c.-30-112_-30-110del (PRF1) MANE Select	ENSP00000398568.1:n.-30-112_-30-110del
ENST00000638674.1:c.-4-138_-4-136del (PRF1)	ENSP00000492048.1:n.-4-138_-4-136del
ENST00000639390.1:n.97+1601_97+1603del (PRF1)
ENST00000373209.2:c.-4-138_-4-136del (PRF1)	ENSP00000362305.1:n.-4-138_-4-136del
ENST00000441259.1:c.-30-112_-30-110del (PRF1)	ENSP00000398568.1:n.-30-112_-30-110del
NM_001083116.1:c.-30-112_-30-110del , LRG_94t1:c.-30-112_-30-110del (PRF1)	NP_001076585.1:n.-30-112_-30-110del
NM_005041.4:c.-4-138_-4-136del (PRF1)	NP_005032.2:n.-4-138_-4-136del
NM_001083116.2:c.-30-112_-30-110del (PRF1)	NP_001076585.1:n.-30-112_-30-110del
NM_005041.5:c.-4-138_-4-136del (PRF1)	NP_005032.2:n.-4-138_-4-136del
NM_001083116.3:c.-30-112_-30-110del (PRF1) MANE Select	NP_001076585.1:n.-30-112_-30-110del
NM_005041.6:c.-4-138_-4-136del (PRF1)	NP_005032.2:n.-4-138_-4-136del