Canonical Allele Identifier: CA2695199510

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70600670_70600674dup , CM000672.2:g.70600670_70600674dup	GRCh38
NC_000010.10:g.72360426_72360430dup , CM000672.1:g.72360426_72360430dup	GRCh37
NC_000010.9:g.72030432_72030436dup	NCBI36
NG_009615.1:g.7102_7106dup , LRG_94:g.7102_7106dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001083116.3:c.229_233dup (PRF1) MANE Select	NP_001076585.1:p.Asn78LysfsTer31
ENST00000441259.2:c.229_233dup (PRF1) MANE Select	ENSP00000398568.1:p.Asn78LysfsTer31
NM_001083116.1:c.229_233dup , LRG_94t1:c.229_233dup (PRF1)	NP_001076585.1:p.Asn78LysfsTer31
NM_001083116.2:c.229_233dup (PRF1)	NP_001076585.1:p.Asn78LysfsTer31
NM_005041.4:c.229_233dup (PRF1)	NP_005032.2:p.Asn78LysfsTer31
NM_005041.5:c.229_233dup (PRF1)	NP_005032.2:p.Asn78LysfsTer31
NM_005041.6:c.229_233dup (PRF1)	NP_005032.2:p.Asn78LysfsTer31
ENST00000373209.2:c.229_233dup (PRF1)	ENSP00000362305.1:p.Asn78LysfsTer31
ENST00000441259.1:c.229_233dup (PRF1)	ENSP00000398568.1:p.Asn78LysfsTer31
ENST00000638674.1:c.229_233dup (PRF1)	ENSP00000492048.1:p.Asn78LysfsTer31
ENST00000639390.1:n.97+1971_97+1975dup (PRF1)
ENST00000697571.1:c.*17+1586_*17+1590dup (PALD1)	ENSP00000513342.1:n.*17+1586_*17+1590dup
ENST00000697572.1:c.2250+36151_2250+36155dup (PALD1)	ENSP00000513343.1:n.2250+36151_2250+36155dup
ENST00000697573.1:c.*17+1586_*17+1590dup (PALD1)	ENSP00000513344.1:n.*17+1586_*17+1590dup
ENST00000697577.1:n.2919+1586_2919+1590dup (PALD1)
ENST00000697578.1:n.2763+1586_2763+1590dup (PALD1)