Canonical Allele Identifier: CA2842983402

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598932dup , CM000672.2:g.70598932dup	GRCh38
NC_000010.10:g.72358688dup , CM000672.1:g.72358688dup	GRCh37
NC_000010.9:g.72028694dup	NCBI36
NG_009615.1:g.8845dup , LRG_94:g.8845dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2463dup (PALD1)	ENSP00000513342.1:p.Trp822LeufsTer?
ENST00000697572.1:c.2250+34413dup (PALD1)	ENSP00000513343.1:n.2250+34413dup
ENST00000697573.1:c.2307dup (PALD1)	ENSP00000513344.1:p.Trp770LeufsTer?
ENST00000697577.1:n.2767dup (PALD1)
ENST00000697578.1:n.2611dup (PALD1)
ENST00000441259.2:c.790dup (PRF1) MANE Select	ENSP00000398568.1:p.Val264GlyfsTer17
ENST00000638674.1:c.540-1090dup (PRF1)	ENSP00000492048.1:n.540-1090dup
ENST00000639390.1:n.98-1090dup (PRF1)
ENST00000373209.2:c.790dup (PRF1)	ENSP00000362305.1:p.Val264GlyfsTer17
ENST00000441259.1:c.790dup (PRF1)	ENSP00000398568.1:p.Val264GlyfsTer17
NM_001083116.1:c.790dup , LRG_94t1:c.790dup (PRF1)	NP_001076585.1:p.Val264GlyfsTer17
NM_005041.4:c.790dup (PRF1)	NP_005032.2:p.Val264GlyfsTer17
NM_001083116.2:c.790dup (PRF1)	NP_001076585.1:p.Val264GlyfsTer17
NM_005041.5:c.790dup (PRF1)	NP_005032.2:p.Val264GlyfsTer17
NM_001083116.3:c.790dup (PRF1) MANE Select	NP_001076585.1:p.Val264GlyfsTer17
NM_005041.6:c.790dup (PRF1)	NP_005032.2:p.Val264GlyfsTer17