Canonical Allele Identifier: CA2609520458

Gene: PALD1 PRF1

Linked Data

• gnomAD v4: 10-70600969-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70600969_70600970insA , CM000672.2:g.70600969_70600970insA	GRCh38
NC_000010.10:g.72360725_72360726insA , CM000672.1:g.72360725_72360726insA	GRCh37
NC_000010.9:g.72030731_72030732insA	NCBI36
NG_009615.1:g.6806_6807insT , LRG_94:g.6806_6807insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1885_*17+1886insA (PALD1)	ENSP00000513342.1:n.*17+1885_*17+1886insA
ENST00000697572.1:c.2250+36450_2250+36451insA (PALD1)	ENSP00000513343.1:n.2250+36450_2250+36451insA
ENST00000697573.1:c.*17+1885_*17+1886insA (PALD1)	ENSP00000513344.1:n.*17+1885_*17+1886insA
ENST00000697577.1:n.2919+1885_2919+1886insA (PALD1)
ENST00000697578.1:n.2763+1885_2763+1886insA (PALD1)
ENST00000441259.2:c.-30-38_-30-37insT (PRF1) MANE Select	ENSP00000398568.1:n.-30-38_-30-37insT
ENST00000638674.1:c.-4-64_-4-63insT (PRF1)	ENSP00000492048.1:n.-4-64_-4-63insT
ENST00000639390.1:n.97+1675_97+1676insT (PRF1)
ENST00000373209.2:c.-4-64_-4-63insT (PRF1)	ENSP00000362305.1:n.-4-64_-4-63insT
ENST00000441259.1:c.-30-38_-30-37insT (PRF1)	ENSP00000398568.1:n.-30-38_-30-37insT
NM_001083116.1:c.-30-38_-30-37insT , LRG_94t1:c.-30-38_-30-37insT (PRF1)	NP_001076585.1:n.-30-38_-30-37insT
NM_005041.4:c.-4-64_-4-63insT (PRF1)	NP_005032.2:n.-4-64_-4-63insT
NM_001083116.2:c.-30-38_-30-37insT (PRF1)	NP_001076585.1:n.-30-38_-30-37insT
NM_005041.5:c.-4-64_-4-63insT (PRF1)	NP_005032.2:n.-4-64_-4-63insT
NM_001083116.3:c.-30-38_-30-37insT (PRF1) MANE Select	NP_001076585.1:n.-30-38_-30-37insT
NM_005041.6:c.-4-64_-4-63insT (PRF1)	NP_005032.2:n.-4-64_-4-63insT