Canonical Allele Identifier: CA1918323068

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70600916_70600918delinsCAG , CM000672.2:g.70600916_70600918delinsCAG	GRCh38
NC_000010.10:g.72360672_72360674delinsCAG , CM000672.1:g.72360672_72360674delinsCAG	GRCh37
NC_000010.9:g.72030678_72030680delinsCAG	NCBI36
NG_009615.1:g.6858_6860delinsCTG , LRG_94:g.6858_6860delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1832_*17+1834delinsCAG (PALD1)	ENSP00000513342.1:n.*17+1832_*17+1834delinsCAG
ENST00000697572.1:c.2250+36397_2250+36399delinsCAG (PALD1)	ENSP00000513343.1:n.2250+36397_2250+36399delinsCAG
ENST00000697573.1:c.*17+1832_*17+1834delinsCAG (PALD1)	ENSP00000513344.1:n.*17+1832_*17+1834delinsCAG
ENST00000697577.1:n.2919+1832_2919+1834delinsCAG (PALD1)
ENST00000697578.1:n.2763+1832_2763+1834delinsCAG (PALD1)
ENST00000441259.2:c.-16_-14delinsCTG (PRF1) MANE Select	ENSP00000398568.1:n.-16_-14delinsCTG
ENST00000638674.1:c.-4-12_-4-10delinsCTG (PRF1)	ENSP00000492048.1:n.-4-12_-4-10delinsCTG
ENST00000639390.1:n.97+1727_97+1729delinsCTG (PRF1)
ENST00000373209.2:c.-4-12_-4-10delinsCTG (PRF1)	ENSP00000362305.1:n.-4-12_-4-10delinsCTG
ENST00000441259.1:c.-16_-14delinsCTG (PRF1)	ENSP00000398568.1:n.-16_-14delinsCTG
NM_001083116.1:c.-16_-14delinsCTG , LRG_94t1:c.-16_-14delinsCTG (PRF1)	NP_001076585.1:n.-16_-14delinsCTG
NM_005041.4:c.-4-12_-4-10delinsCTG (PRF1)	NP_005032.2:n.-4-12_-4-10delinsCTG
NM_001083116.2:c.-16_-14delinsCTG (PRF1)	NP_001076585.1:n.-16_-14delinsCTG
NM_005041.5:c.-4-12_-4-10delinsCTG (PRF1)	NP_005032.2:n.-4-12_-4-10delinsCTG
NM_001083116.3:c.-16_-14delinsCTG (PRF1) MANE Select	NP_001076585.1:n.-16_-14delinsCTG
NM_005041.6:c.-4-12_-4-10delinsCTG (PRF1)	NP_005032.2:n.-4-12_-4-10delinsCTG