Canonical Allele Identifier: CA2788447460

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598322_70598323insCACACCCAACAC , CM000672.2:g.70598322_70598323insCACACCCAACAC	GRCh38
NC_000010.10:g.72358078_72358079insCACACCCAACAC , CM000672.1:g.72358078_72358079insCACACCCAACAC	GRCh37
NC_000010.9:g.72028084_72028085insCACACCCAACAC	NCBI36
NG_009615.1:g.9453_9454insGTGTTGGGTGTG , LRG_94:g.9453_9454insGTGTTGGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-566_2419-565insCACACCCAACAC (PALD1)	ENSP00000513342.1:n.2419-566_2419-565insCACACCCAACAC
ENST00000697572.1:c.2250+33803_2250+33804insCACACCCAACAC (PALD1)	ENSP00000513343.1:n.2250+33803_2250+33804insCACACCCAACAC
ENST00000697573.1:c.2263-566_2263-565insCACACCCAACAC (PALD1)	ENSP00000513344.1:n.2263-566_2263-565insCACACCCAACAC
ENST00000697577.1:n.2723-566_2723-565insCACACCCAACAC (PALD1)
ENST00000697578.1:n.2567-566_2567-565insCACACCCAACAC (PALD1)
ENST00000441259.2:c.1398_1399insGTGTTGGGTGTG (PRF1) MANE Select	ENSP00000398568.1:p.Asp466_Phe467insValLeuGlyVal
ENST00000638674.1:c.540-482_540-481insGTGTTGGGTGTG (PRF1)	ENSP00000492048.1:n.540-482_540-481insGTGTTGGGTGTG
ENST00000639390.1:n.98-482_98-481insGTGTTGGGTGTG (PRF1)
ENST00000373209.2:c.1398_1399insGTGTTGGGTGTG (PRF1)	ENSP00000362305.1:p.Asp466_Phe467insValLeuGlyVal
ENST00000441259.1:c.1398_1399insGTGTTGGGTGTG (PRF1)	ENSP00000398568.1:p.Asp466_Phe467insValLeuGlyVal
NM_001083116.1:c.1398_1399insGTGTTGGGTGTG , LRG_94t1:c.1398_1399insGTGTTGGGTGTG (PRF1)	NP_001076585.1:p.Asp466_Phe467insValLeuGlyVal
NM_005041.4:c.1398_1399insGTGTTGGGTGTG (PRF1)	NP_005032.2:p.Asp466_Phe467insValLeuGlyVal
NM_001083116.2:c.1398_1399insGTGTTGGGTGTG (PRF1)	NP_001076585.1:p.Asp466_Phe467insValLeuGlyVal
NM_005041.5:c.1398_1399insGTGTTGGGTGTG (PRF1)	NP_005032.2:p.Asp466_Phe467insValLeuGlyVal
NM_001083116.3:c.1398_1399insGTGTTGGGTGTG (PRF1) MANE Select	NP_001076585.1:p.Asp466_Phe467insValLeuGlyVal
NM_005041.6:c.1398_1399insGTGTTGGGTGTG (PRF1)	NP_005032.2:p.Asp466_Phe467insValLeuGlyVal