Canonical Allele Identifier: CA1918322997

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70600864_70600867delinsCAGG , CM000672.2:g.70600864_70600867delinsCAGG	GRCh38
NC_000010.10:g.72360620_72360623delinsCAGG , CM000672.1:g.72360620_72360623delinsCAGG	GRCh37
NC_000010.9:g.72030626_72030629delinsCAGG	NCBI36
NG_009615.1:g.6909_6912delinsCCTG , LRG_94:g.6909_6912delinsCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1780_*17+1783delinsCAGG (PALD1)	ENSP00000513342.1:n.*17+1780_*17+1783delinsCAGG
ENST00000697572.1:c.2250+36345_2250+36348delinsCAGG (PALD1)	ENSP00000513343.1:n.2250+36345_2250+36348delinsCAGG
ENST00000697573.1:c.*17+1780_*17+1783delinsCAGG (PALD1)	ENSP00000513344.1:n.*17+1780_*17+1783delinsCAGG
ENST00000697577.1:n.2919+1780_2919+1783delinsCAGG (PALD1)
ENST00000697578.1:n.2763+1780_2763+1783delinsCAGG (PALD1)
ENST00000441259.2:c.36_39delinsCCTG (PRF1) MANE Select	ENSP00000398568.1:p.Leu12=
ENST00000638674.1:c.36_39delinsCCTG (PRF1)	ENSP00000492048.1:p.Leu12=
ENST00000639390.1:n.97+1778_97+1781delinsCCTG (PRF1)
ENST00000373209.2:c.36_39delinsCCTG (PRF1)	ENSP00000362305.1:p.Leu12=
ENST00000441259.1:c.36_39delinsCCTG (PRF1)	ENSP00000398568.1:p.Leu12=
NM_001083116.1:c.36_39delinsCCTG , LRG_94t1:c.36_39delinsCCTG (PRF1)	NP_001076585.1:p.Leu12=
NM_005041.4:c.36_39delinsCCTG (PRF1)	NP_005032.2:p.Leu12=
NM_001083116.2:c.36_39delinsCCTG (PRF1)	NP_001076585.1:p.Leu12=
NM_005041.5:c.36_39delinsCCTG (PRF1)	NP_005032.2:p.Leu12=
NM_001083116.3:c.36_39delinsCCTG (PRF1) MANE Select	NP_001076585.1:p.Leu12=
NM_005041.6:c.36_39delinsCCTG (PRF1)	NP_005032.2:p.Leu12=