Canonical Allele Identifier: CA2788447465

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598437_70598438insAACAACCCCAAACACACCCAACA , CM000672.2:g.70598437_70598438insAACAACCCCAAACACACCCAACA GRCh38
NC_000010.10:g.72358193_72358194insAACAACCCCAAACACACCCAACA , CM000672.1:g.72358193_72358194insAACAACCCCAAACACACCCAACA GRCh37
NC_000010.9:g.72028199_72028200insAACAACCCCAAACACACCCAACA NCBI36
NG_009615.1:g.9338_9339insTGTTGGGTGTGTTTGGGGTTGTT , LRG_94:g.9338_9339insTGTTGGGTGTGTTTGGGGTTGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2419-451_2419-450insAACAACCCCAAACACACCCAACA (PALD1) ENSP00000513342.1:n.2419-451_2419-450insAACAACCCCAAACACACCCAA...
ENST00000697572.1:c.2250+33918_2250+33919insAACAACCCCAAACACACCCAACA (PALD1) ENSP00000513343.1:n.2250+33918_2250+33919insAACAACCCCAAACACAC...
ENST00000697573.1:c.2263-451_2263-450insAACAACCCCAAACACACCCAACA (PALD1) ENSP00000513344.1:n.2263-451_2263-450insAACAACCCCAAACACACCCAA...
ENST00000697577.1:n.2723-451_2723-450insAACAACCCCAAACACACCCAACA (PALD1)
ENST00000697578.1:n.2567-451_2567-450insAACAACCCCAAACACACCCAACA (PALD1)
ENST00000441259.2:c.1283_1284insTGTTGGGTGTGTTTGGGGTTGTT (PRF1) MANE Select ENSP00000398568.1:p.Trp428CysfsTer20
ENST00000638674.1:c.540-597_540-596insTGTTGGGTGTGTTTGGGGTTGTT (PRF1) ENSP00000492048.1:n.540-597_540-596insTGTTGGGTGTGTTTGGGGTTGTT...
ENST00000639390.1:n.98-597_98-596insTGTTGGGTGTGTTTGGGGTTGTT (PRF1)
ENST00000373209.2:c.1283_1284insTGTTGGGTGTGTTTGGGGTTGTT (PRF1) ENSP00000362305.1:p.Trp428CysfsTer20
ENST00000441259.1:c.1283_1284insTGTTGGGTGTGTTTGGGGTTGTT (PRF1) ENSP00000398568.1:p.Trp428CysfsTer20
NM_001083116.1:c.1283_1284insTGTTGGGTGTGTTTGGGGTTGTT , LRG_94t1:c.1283_1284insTGTTGGGTGTGTTTGGGGTTGTT (PRF1) NP_001076585.1:p.Trp428CysfsTer20
NM_005041.4:c.1283_1284insTGTTGGGTGTGTTTGGGGTTGTT (PRF1) NP_005032.2:p.Trp428CysfsTer20
NM_001083116.2:c.1283_1284insTGTTGGGTGTGTTTGGGGTTGTT (PRF1) NP_001076585.1:p.Trp428CysfsTer20
NM_005041.5:c.1283_1284insTGTTGGGTGTGTTTGGGGTTGTT (PRF1) NP_005032.2:p.Trp428CysfsTer20
NM_001083116.3:c.1283_1284insTGTTGGGTGTGTTTGGGGTTGTT (PRF1) MANE Select NP_001076585.1:p.Trp428CysfsTer20
NM_005041.6:c.1283_1284insTGTTGGGTGTGTTTGGGGTTGTT (PRF1) NP_005032.2:p.Trp428CysfsTer20