Canonical Allele Identifier: CA1213147493

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186453327_186453345delinsTACGCATTAGTTTTAAAAG , CM000663.2:g.186453327_186453345delinsTACGCATTAGTTTTAAAAG GRCh38
NC_000001.10:g.186422459_186422477delinsTACGCATTAGTTTTAAAAG , CM000663.1:g.186422459_186422477delinsTACGCATTAGTTTTAAAAG GRCh37
NC_000001.9:g.184689082_184689100delinsTACGCATTAGTTTTAAAAG NCBI36
NG_009101.1:g.12763_12781delinsCTTTTAAAACTAATGCGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000391997.3:c.-24-3862_-24-3844delinsCTTTTAAAACTAATGCGTA (PDC) MANE Select ENSP00000375855.2:n.-24-3862_-24-3844delinsCTTTTAAAACTAATGCGT...
ENST00000391997.2:c.-24-3862_-24-3844delinsCTTTTAAAACTAATGCGTA (PDC) ENSP00000375855.2:n.-24-3862_-24-3844delinsCTTTTAAAACTAATGCGT...
NM_002597.4:c.-24-3862_-24-3844delinsCTTTTAAAACTAATGCGTA (PDC) NP_002588.3:n.-24-3862_-24-3844delinsCTTTTAAAACTAATGCGTA
NR_126002.1:n.441+2053_441+2071delinsTACGCATTAGTTTTAAAAG (PDC-AS1)
NM_002597.5:c.-24-3862_-24-3844delinsCTTTTAAAACTAATGCGTA (PDC) MANE Select NP_002588.3:n.-24-3862_-24-3844delinsCTTTTAAAACTAATGCGTA