Canonical Allele Identifier: CA2609518618

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598530dup , CM000672.2:g.70598530dup GRCh38
NC_000010.10:g.72358286dup , CM000672.1:g.72358286dup GRCh37
NC_000010.9:g.72028292dup NCBI36
NG_009615.1:g.9247dup , LRG_94:g.9247dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2419-358dup (PALD1) ENSP00000513342.1:n.2419-358dup
ENST00000697572.1:c.2250+34011dup (PALD1) ENSP00000513343.1:n.2250+34011dup
ENST00000697573.1:c.2263-358dup (PALD1) ENSP00000513344.1:n.2263-358dup
ENST00000697577.1:n.2723-358dup (PALD1)
ENST00000697578.1:n.2567-358dup (PALD1)
ENST00000441259.2:c.1192dup (PRF1) MANE Select ENSP00000398568.1:p.His398ProfsTer?
ENST00000638674.1:c.540-688dup (PRF1) ENSP00000492048.1:n.540-688dup
ENST00000639390.1:n.98-688dup (PRF1)
ENST00000373209.2:c.1192dup (PRF1) ENSP00000362305.1:p.His398ProfsTer?
ENST00000441259.1:c.1192dup (PRF1) ENSP00000398568.1:p.His398ProfsTer?
NM_001083116.1:c.1192dup , LRG_94t1:c.1192dup (PRF1) NP_001076585.1:p.His398ProfsTer?
NM_005041.4:c.1192dup (PRF1) NP_005032.2:p.His398ProfsTer?
NM_001083116.2:c.1192dup (PRF1) NP_001076585.1:p.His398ProfsTer?
NM_005041.5:c.1192dup (PRF1) NP_005032.2:p.His398ProfsTer?
NM_001083116.3:c.1192dup (PRF1) MANE Select NP_001076585.1:p.His398ProfsTer?
NM_005041.6:c.1192dup (PRF1) NP_005032.2:p.His398ProfsTer?