Canonical Allele Identifier: CA2609520536

Gene: PALD1 PRF1

Linked Data

• gnomAD v4: 10-70601062-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70601064_70601065dup , CM000672.2:g.70601064_70601065dup	GRCh38
NC_000010.10:g.72360820_72360821dup , CM000672.1:g.72360820_72360821dup	GRCh37
NC_000010.9:g.72030826_72030827dup	NCBI36
NG_009615.1:g.6712_6713dup , LRG_94:g.6712_6713dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1980_*17+1981dup (PALD1)	ENSP00000513342.1:n.*17+1980_*17+1981dup
ENST00000697572.1:c.2250+36545_2250+36546dup (PALD1)	ENSP00000513343.1:n.2250+36545_2250+36546dup
ENST00000697573.1:c.*17+1980_*17+1981dup (PALD1)	ENSP00000513344.1:n.*17+1980_*17+1981dup
ENST00000697577.1:n.2919+1980_2919+1981dup (PALD1)
ENST00000697578.1:n.2763+1980_2763+1981dup (PALD1)
ENST00000441259.2:c.-30-132_-30-131dup (PRF1) MANE Select	ENSP00000398568.1:n.-30-132_-30-131dup
ENST00000638674.1:c.-4-158_-4-157dup (PRF1)	ENSP00000492048.1:n.-4-158_-4-157dup
ENST00000639390.1:n.97+1581_97+1582dup (PRF1)
ENST00000373209.2:c.-4-158_-4-157dup (PRF1)	ENSP00000362305.1:n.-4-158_-4-157dup
ENST00000441259.1:c.-30-132_-30-131dup (PRF1)	ENSP00000398568.1:n.-30-132_-30-131dup
NM_001083116.1:c.-30-132_-30-131dup , LRG_94t1:c.-30-132_-30-131dup (PRF1)	NP_001076585.1:n.-30-132_-30-131dup
NM_005041.4:c.-4-158_-4-157dup (PRF1)	NP_005032.2:n.-4-158_-4-157dup
NM_001083116.2:c.-30-132_-30-131dup (PRF1)	NP_001076585.1:n.-30-132_-30-131dup
NM_005041.5:c.-4-158_-4-157dup (PRF1)	NP_005032.2:n.-4-158_-4-157dup
NM_001083116.3:c.-30-132_-30-131dup (PRF1) MANE Select	NP_001076585.1:n.-30-132_-30-131dup
NM_005041.6:c.-4-158_-4-157dup (PRF1)	NP_005032.2:n.-4-158_-4-157dup