Canonical Allele Identifier: CA2609520521

Gene: PALD1 PRF1

Linked Data

• gnomAD v4: 10-70601042-TTCAATGAATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70601046_70601055del , CM000672.2:g.70601046_70601055del	GRCh38
NC_000010.10:g.72360802_72360811del , CM000672.1:g.72360802_72360811del	GRCh37
NC_000010.9:g.72030808_72030817del	NCBI36
NG_009615.1:g.6724_6733del , LRG_94:g.6724_6733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1962_*17+1971del (PALD1)	ENSP00000513342.1:n.*17+1962_*17+1971del
ENST00000697572.1:c.2250+36527_2250+36536del (PALD1)	ENSP00000513343.1:n.2250+36527_2250+36536del
ENST00000697573.1:c.*17+1962_*17+1971del (PALD1)	ENSP00000513344.1:n.*17+1962_*17+1971del
ENST00000697577.1:n.2919+1962_2919+1971del (PALD1)
ENST00000697578.1:n.2763+1962_2763+1971del (PALD1)
ENST00000441259.2:c.-30-120_-30-111del (PRF1) MANE Select	ENSP00000398568.1:n.-30-120_-30-111del
ENST00000638674.1:c.-4-146_-4-137del (PRF1)	ENSP00000492048.1:n.-4-146_-4-137del
ENST00000639390.1:n.97+1593_97+1602del (PRF1)
ENST00000373209.2:c.-4-146_-4-137del (PRF1)	ENSP00000362305.1:n.-4-146_-4-137del
ENST00000441259.1:c.-30-120_-30-111del (PRF1)	ENSP00000398568.1:n.-30-120_-30-111del
NM_001083116.1:c.-30-120_-30-111del , LRG_94t1:c.-30-120_-30-111del (PRF1)	NP_001076585.1:n.-30-120_-30-111del
NM_005041.4:c.-4-146_-4-137del (PRF1)	NP_005032.2:n.-4-146_-4-137del
NM_001083116.2:c.-30-120_-30-111del (PRF1)	NP_001076585.1:n.-30-120_-30-111del
NM_005041.5:c.-4-146_-4-137del (PRF1)	NP_005032.2:n.-4-146_-4-137del
NM_001083116.3:c.-30-120_-30-111del (PRF1) MANE Select	NP_001076585.1:n.-30-120_-30-111del
NM_005041.6:c.-4-146_-4-137del (PRF1)	NP_005032.2:n.-4-146_-4-137del