Canonical Allele Identifier: CA2739275770

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70600469_70600472del , CM000672.2:g.70600469_70600472del	GRCh38
NC_000010.10:g.72360225_72360228del , CM000672.1:g.72360225_72360228del	GRCh37
NC_000010.9:g.72030231_72030234del	NCBI36
NG_009615.1:g.7304_7307del , LRG_94:g.7304_7307del

Transcript Alleles

HGVS	Amino-acid Change
NM_001083116.3:c.431_434del (PRF1) MANE Select	NP_001076585.1:p.His144ArgfsTer?
ENST00000441259.2:c.431_434del (PRF1) MANE Select	ENSP00000398568.1:p.His144ArgfsTer?
NM_001083116.1:c.431_434del , LRG_94t1:c.431_434del (PRF1)	NP_001076585.1:p.His144ArgfsTer?
NM_001083116.2:c.431_434del (PRF1)	NP_001076585.1:p.His144ArgfsTer?
NM_005041.4:c.431_434del (PRF1)	NP_005032.2:p.His144ArgfsTer?
NM_005041.5:c.431_434del (PRF1)	NP_005032.2:p.His144ArgfsTer?
NM_005041.6:c.431_434del (PRF1)	NP_005032.2:p.His144ArgfsTer?
ENST00000373209.2:c.431_434del (PRF1)	ENSP00000362305.1:p.His144ArgfsTer?
ENST00000441259.1:c.431_434del (PRF1)	ENSP00000398568.1:p.His144ArgfsTer?
ENST00000638674.1:c.431_434del (PRF1)	ENSP00000492048.1:p.His144ArgfsTer?
ENST00000639390.1:n.97+2173_97+2176del (PRF1)
ENST00000697571.1:c.*17+1385_*17+1388del (PALD1)	ENSP00000513342.1:n.*17+1385_*17+1388del
ENST00000697572.1:c.2250+35950_2250+35953del (PALD1)	ENSP00000513343.1:n.2250+35950_2250+35953del
ENST00000697573.1:c.*17+1385_*17+1388del (PALD1)	ENSP00000513344.1:n.*17+1385_*17+1388del
ENST00000697577.1:n.2919+1385_2919+1388del (PALD1)
ENST00000697578.1:n.2763+1385_2763+1388del (PALD1)