Canonical Allele Identifier: CA1918330411

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598948_70598949delinsAG , CM000672.2:g.70598948_70598949delinsAG	GRCh38
NC_000010.10:g.72358704_72358705delinsAG , CM000672.1:g.72358704_72358705delinsAG	GRCh37
NC_000010.9:g.72028710_72028711delinsAG	NCBI36
NG_009615.1:g.8827_8828delinsCT , LRG_94:g.8827_8828delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2479_2480delinsAG (PALD1)	ENSP00000513342.1:p.Arg827=
ENST00000697572.1:c.2250+34429_2250+34430delinsAG (PALD1)	ENSP00000513343.1:n.2250+34429_2250+34430delinsAG
ENST00000697573.1:c.2323_2324delinsAG (PALD1)	ENSP00000513344.1:p.Arg775=
ENST00000697577.1:n.2783_2784delinsAG (PALD1)
ENST00000697578.1:n.2627_2628delinsAG (PALD1)
ENST00000441259.2:c.772_773delinsCT (PRF1) MANE Select	ENSP00000398568.1:p.Leu258=
ENST00000638674.1:c.540-1108_540-1107delinsCT (PRF1)	ENSP00000492048.1:n.540-1108_540-1107delinsCT
ENST00000639390.1:n.98-1108_98-1107delinsCT (PRF1)
ENST00000373209.2:c.772_773delinsCT (PRF1)	ENSP00000362305.1:p.Leu258=
ENST00000441259.1:c.772_773delinsCT (PRF1)	ENSP00000398568.1:p.Leu258=
NM_001083116.1:c.772_773delinsCT , LRG_94t1:c.772_773delinsCT (PRF1)	NP_001076585.1:p.Leu258=
NM_005041.4:c.772_773delinsCT (PRF1)	NP_005032.2:p.Leu258=
NM_001083116.2:c.772_773delinsCT (PRF1)	NP_001076585.1:p.Leu258=
NM_005041.5:c.772_773delinsCT (PRF1)	NP_005032.2:p.Leu258=
NM_001083116.3:c.772_773delinsCT (PRF1) MANE Select	NP_001076585.1:p.Leu258=
NM_005041.6:c.772_773delinsCT (PRF1)	NP_005032.2:p.Leu258=