Canonical Allele Identifier: CA1918328889

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598215_70598217delinsCTT , CM000672.2:g.70598215_70598217delinsCTT GRCh38
NC_000010.10:g.72357971_72357973delinsCTT , CM000672.1:g.72357971_72357973delinsCTT GRCh37
NC_000010.9:g.72027977_72027979delinsCTT NCBI36
NG_009615.1:g.9559_9561delinsAAG , LRG_94:g.9559_9561delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2419-673_2419-671delinsCTT (PALD1) ENSP00000513342.1:n.2419-673_2419-671delinsCTT
ENST00000697572.1:c.2250+33696_2250+33698delinsCTT (PALD1) ENSP00000513343.1:n.2250+33696_2250+33698delinsCTT
ENST00000697573.1:c.2263-673_2263-671delinsCTT (PALD1) ENSP00000513344.1:n.2263-673_2263-671delinsCTT
ENST00000697577.1:n.2723-673_2723-671delinsCTT (PALD1)
ENST00000697578.1:n.2567-673_2567-671delinsCTT (PALD1)
ENST00000441259.2:c.1504_1506delinsAAG (PRF1) MANE Select ENSP00000398568.1:p.Lys502=
ENST00000638674.1:c.540-376_540-374delinsAAG (PRF1) ENSP00000492048.1:n.540-376_540-374delinsAAG
ENST00000639390.1:n.98-376_98-374delinsAAG (PRF1)
ENST00000373209.2:c.1504_1506delinsAAG (PRF1) ENSP00000362305.1:p.Lys502=
ENST00000441259.1:c.1504_1506delinsAAG (PRF1) ENSP00000398568.1:p.Lys502=
NM_001083116.1:c.1504_1506delinsAAG , LRG_94t1:c.1504_1506delinsAAG (PRF1) NP_001076585.1:p.Lys502=
NM_005041.4:c.1504_1506delinsAAG (PRF1) NP_005032.2:p.Lys502=
NM_001083116.2:c.1504_1506delinsAAG (PRF1) NP_001076585.1:p.Lys502=
NM_005041.5:c.1504_1506delinsAAG (PRF1) NP_005032.2:p.Lys502=
NM_001083116.3:c.1504_1506delinsAAG (PRF1) MANE Select NP_001076585.1:p.Lys502=
NM_005041.6:c.1504_1506delinsAAG (PRF1) NP_005032.2:p.Lys502=