Canonical Allele Identifier: CA2788447463

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598326_70598327insCCCCAAACACACCCAACAC , CM000672.2:g.70598326_70598327insCCCCAAACACACCCAACAC	GRCh38
NC_000010.10:g.72358082_72358083insCCCCAAACACACCCAACAC , CM000672.1:g.72358082_72358083insCCCCAAACACACCCAACAC	GRCh37
NC_000010.9:g.72028088_72028089insCCCCAAACACACCCAACAC	NCBI36
NG_009615.1:g.9450_9451insTGTTGGGTGTGTTTGGGGG , LRG_94:g.9450_9451insTGTTGGGTGTGTTTGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-562_2419-561insCCCCAAACACACCCAACAC (PALD1)	ENSP00000513342.1:n.2419-562_2419-561insCCCCAAACACACCCAACAC
ENST00000697572.1:c.2250+33807_2250+33808insCCCCAAACACACCCAACAC (PALD1)	ENSP00000513343.1:n.2250+33807_2250+33808insCCCCAAACACACCCAAC...
ENST00000697573.1:c.2263-562_2263-561insCCCCAAACACACCCAACAC (PALD1)	ENSP00000513344.1:n.2263-562_2263-561insCCCCAAACACACCCAACAC
ENST00000697577.1:n.2723-562_2723-561insCCCCAAACACACCCAACAC (PALD1)
ENST00000697578.1:n.2567-562_2567-561insCCCCAAACACACCCAACAC (PALD1)
ENST00000441259.2:c.1395_1396insTGTTGGGTGTGTTTGGGGG (PRF1) MANE Select	ENSP00000398568.1:p.Asp466CysfsTer33
ENST00000638674.1:c.540-485_540-484insTGTTGGGTGTGTTTGGGGG (PRF1)	ENSP00000492048.1:n.540-485_540-484insTGTTGGGTGTGTTTGGGGG
ENST00000639390.1:n.98-485_98-484insTGTTGGGTGTGTTTGGGGG (PRF1)
ENST00000373209.2:c.1395_1396insTGTTGGGTGTGTTTGGGGG (PRF1)	ENSP00000362305.1:p.Asp466CysfsTer33
ENST00000441259.1:c.1395_1396insTGTTGGGTGTGTTTGGGGG (PRF1)	ENSP00000398568.1:p.Asp466CysfsTer33
NM_001083116.1:c.1395_1396insTGTTGGGTGTGTTTGGGGG , LRG_94t1:c.1395_1396insTGTTGGGTGTGTTTGGGGG (PRF1)	NP_001076585.1:p.Asp466CysfsTer33
NM_005041.4:c.1395_1396insTGTTGGGTGTGTTTGGGGG (PRF1)	NP_005032.2:p.Asp466CysfsTer33
NM_001083116.2:c.1395_1396insTGTTGGGTGTGTTTGGGGG (PRF1)	NP_001076585.1:p.Asp466CysfsTer33
NM_005041.5:c.1395_1396insTGTTGGGTGTGTTTGGGGG (PRF1)	NP_005032.2:p.Asp466CysfsTer33
NM_001083116.3:c.1395_1396insTGTTGGGTGTGTTTGGGGG (PRF1) MANE Select	NP_001076585.1:p.Asp466CysfsTer33
NM_005041.6:c.1395_1396insTGTTGGGTGTGTTTGGGGG (PRF1)	NP_005032.2:p.Asp466CysfsTer33