Canonical Allele Identifier: CA2842983430

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70600824_70600825insCACACAGCCGCACGCTCA , CM000672.2:g.70600824_70600825insCACACAGCCGCACGCTCA GRCh38
NC_000010.10:g.72360580_72360581insCACACAGCCGCACGCTCA , CM000672.1:g.72360580_72360581insCACACAGCCGCACGCTCA GRCh37
NC_000010.9:g.72030586_72030587insCACACAGCCGCACGCTCA NCBI36
NG_009615.1:g.6951_6952insTGAGCGTGCGGCTGTGTG , LRG_94:g.6951_6952insTGAGCGTGCGGCTGTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.*17+1740_*17+1741insCACACAGCCGCACGCTCA (PALD1) ENSP00000513342.1:n.*17+1740_*17+1741insCACACAGCCGCACGCTCA
ENST00000697572.1:c.2250+36305_2250+36306insCACACAGCCGCACGCTCA (PALD1) ENSP00000513343.1:n.2250+36305_2250+36306insCACACAGCCGCACGCTC...
ENST00000697573.1:c.*17+1740_*17+1741insCACACAGCCGCACGCTCA (PALD1) ENSP00000513344.1:n.*17+1740_*17+1741insCACACAGCCGCACGCTCA
ENST00000697577.1:n.2919+1740_2919+1741insCACACAGCCGCACGCTCA (PALD1)
ENST00000697578.1:n.2763+1740_2763+1741insCACACAGCCGCACGCTCA (PALD1)
ENST00000441259.2:c.78_79insTGAGCGTGCGGCTGTGTG (PRF1)
ENST00000638674.1:c.78_79insTGAGCGTGCGGCTGTGTG (PRF1)
ENST00000639390.1:n.97+1820_97+1821insTGAGCGTGCGGCTGTGTG (PRF1)
ENST00000373209.2:c.78_79insTGAGCGTGCGGCTGTGTG (PRF1)
ENST00000441259.1:c.78_79insTGAGCGTGCGGCTGTGTG (PRF1)
NM_001083116.1:c.78_79insTGAGCGTGCGGCTGTGTG , LRG_94t1:c.78_79insTGAGCGTGCGGCTGTGTG (PRF1)
NM_005041.4:c.78_79insTGAGCGTGCGGCTGTGTG (PRF1)
NM_001083116.2:c.78_79insTGAGCGTGCGGCTGTGTG (PRF1)
NM_005041.5:c.78_79insTGAGCGTGCGGCTGTGTG (PRF1)
NM_001083116.3:c.78_79insTGAGCGTGCGGCTGTGTG (PRF1)
NM_005041.6:c.78_79insTGAGCGTGCGGCTGTGTG (PRF1)