Canonical Allele Identifier: CA2788447459

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598323_70598325del , CM000672.2:g.70598323_70598325del GRCh38
NC_000010.10:g.72358079_72358081del , CM000672.1:g.72358079_72358081del GRCh37
NC_000010.9:g.72028085_72028087del NCBI36
NG_009615.1:g.9451_9453del , LRG_94:g.9451_9453del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2419-565_2419-563del (PALD1) ENSP00000513342.1:n.2419-565_2419-563del
ENST00000697572.1:c.2250+33804_2250+33806del (PALD1) ENSP00000513343.1:n.2250+33804_2250+33806del
ENST00000697573.1:c.2263-565_2263-563del (PALD1) ENSP00000513344.1:n.2263-565_2263-563del
ENST00000697577.1:n.2723-565_2723-563del (PALD1)
ENST00000697578.1:n.2567-565_2567-563del (PALD1)
ENST00000441259.2:c.1396_1398del (PRF1) MANE Select ENSP00000398568.1:p.Asp466del
ENST00000638674.1:c.540-484_540-482del (PRF1) ENSP00000492048.1:n.540-484_540-482del
ENST00000639390.1:n.98-484_98-482del (PRF1)
ENST00000373209.2:c.1396_1398del (PRF1) ENSP00000362305.1:p.Asp466del
ENST00000441259.1:c.1396_1398del (PRF1) ENSP00000398568.1:p.Asp466del
NM_001083116.1:c.1396_1398del , LRG_94t1:c.1396_1398del (PRF1) NP_001076585.1:p.Asp466del
NM_005041.4:c.1396_1398del (PRF1) NP_005032.2:p.Asp466del
NM_001083116.2:c.1396_1398del (PRF1) NP_001076585.1:p.Asp466del
NM_005041.5:c.1396_1398del (PRF1) NP_005032.2:p.Asp466del
NM_001083116.3:c.1396_1398del (PRF1) MANE Select NP_001076585.1:p.Asp466del
NM_005041.6:c.1396_1398del (PRF1) NP_005032.2:p.Asp466del