Canonical Allele Identifier: CA594704952

Linked Data

ClinVar Variation Id: 1027586
dbSNP Id: rs1361687182

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598538_70598539dup , CM000672.2:g.70598538_70598539dup GRCh38
NC_000010.10:g.72358294_72358295dup , CM000672.1:g.72358294_72358295dup GRCh37
NC_000010.9:g.72028300_72028301dup NCBI36
NG_009615.1:g.9244_9245dup , LRG_94:g.9244_9245dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2419-350_2419-349dup (PALD1) ENSP00000513342.1:n.2419-350_2419-349dup
ENST00000697572.1:c.2250+34019_2250+34020dup (PALD1) ENSP00000513343.1:n.2250+34019_2250+34020dup
ENST00000697573.1:c.2263-350_2263-349dup (PALD1) ENSP00000513344.1:n.2263-350_2263-349dup
ENST00000697577.1:n.2723-350_2723-349dup (PALD1)
ENST00000697578.1:n.2567-350_2567-349dup (PALD1)
ENST00000441259.2:c.1189_1190dup (PRF1) MANE Select ENSP00000398568.1:p.His398AlafsTer23
ENST00000638674.1:c.540-691_540-690dup (PRF1) ENSP00000492048.1:n.540-691_540-690dup
ENST00000639390.1:n.98-691_98-690dup (PRF1)
ENST00000373209.2:c.1189_1190dup (PRF1) ENSP00000362305.1:p.His398AlafsTer23
ENST00000441259.1:c.1189_1190dup (PRF1) ENSP00000398568.1:p.His398AlafsTer23
NM_001083116.1:c.1189_1190dup , LRG_94t1:c.1189_1190dup (PRF1) NP_001076585.1:p.His398AlafsTer23
NM_005041.4:c.1189_1190dup (PRF1) NP_005032.2:p.His398AlafsTer23
NM_001083116.2:c.1189_1190dup (PRF1) NP_001076585.1:p.His398AlafsTer23
NM_005041.5:c.1189_1190dup (PRF1) NP_005032.2:p.His398AlafsTer23
NM_001083116.3:c.1189_1190dup (PRF1) MANE Select NP_001076585.1:p.His398AlafsTer23
NM_005041.6:c.1189_1190dup (PRF1) NP_005032.2:p.His398AlafsTer23