Canonical Allele Identifier: CA1918330252

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598858_70598870delinsATCTTGTGCTTCT , CM000672.2:g.70598858_70598870delinsATCTTGTGCTTCT GRCh38
NC_000010.10:g.72358614_72358626delinsATCTTGTGCTTCT , CM000672.1:g.72358614_72358626delinsATCTTGTGCTTCT GRCh37
NC_000010.9:g.72028620_72028632delinsATCTTGTGCTTCT NCBI36
NG_009615.1:g.8906_8918delinsAGAAGCACAAGAT , LRG_94:g.8906_8918delinsAGAAGCACAAGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2419-30_2419-18delinsATCTTGTGCTTCT (PALD1) ENSP00000513342.1:n.2419-30_2419-18delinsATCTTGTGCTTCT
ENST00000697572.1:c.2250+34339_2250+34351delinsATCTTGTGCTTCT (PALD1) ENSP00000513343.1:n.2250+34339_2250+34351delinsATCTTGTGCTTCT
ENST00000697573.1:c.2263-30_2263-18delinsATCTTGTGCTTCT (PALD1) ENSP00000513344.1:n.2263-30_2263-18delinsATCTTGTGCTTCT
ENST00000697577.1:n.2723-30_2723-18delinsATCTTGTGCTTCT (PALD1)
ENST00000697578.1:n.2567-30_2567-18delinsATCTTGTGCTTCT (PALD1)
ENST00000441259.2:c.851_863delinsAGAAGCACAAGAT (PRF1) MANE Select ENSP00000398568.1:p.Lys284=
ENST00000638674.1:c.540-1029_540-1017delinsAGAAGCACAAGAT (PRF1) ENSP00000492048.1:n.540-1029_540-1017delinsAGAAGCACAAGAT
ENST00000639390.1:n.98-1029_98-1017delinsAGAAGCACAAGAT (PRF1)
ENST00000373209.2:c.851_863delinsAGAAGCACAAGAT (PRF1) ENSP00000362305.1:p.Lys284=
ENST00000441259.1:c.851_863delinsAGAAGCACAAGAT (PRF1) ENSP00000398568.1:p.Lys284=
NM_001083116.1:c.851_863delinsAGAAGCACAAGAT , LRG_94t1:c.851_863delinsAGAAGCACAAGAT (PRF1) NP_001076585.1:p.Lys284=
NM_005041.4:c.851_863delinsAGAAGCACAAGAT (PRF1) NP_005032.2:p.Lys284=
NM_001083116.2:c.851_863delinsAGAAGCACAAGAT (PRF1) NP_001076585.1:p.Lys284=
NM_005041.5:c.851_863delinsAGAAGCACAAGAT (PRF1) NP_005032.2:p.Lys284=
NM_001083116.3:c.851_863delinsAGAAGCACAAGAT (PRF1) MANE Select NP_001076585.1:p.Lys284=
NM_005041.6:c.851_863delinsAGAAGCACAAGAT (PRF1) NP_005032.2:p.Lys284=