Canonical Allele Identifier: CA2762537011
Gene: PKD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008092del , CM000666.2:g.88008092del GRCh38
NC_000004.11:g.88929244del , CM000666.1:g.88929244del GRCh37
NC_000004.10:g.89148268del NCBI36
NG_008604.1:g.5425del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.359del MANE Select ENSP00000237596.2:p.Pro120ArgfsTer12
ENST00000237596.6:c.359del ENSP00000237596.2:p.Pro120ArgfsTer12
NM_000297.3:c.359del NP_000288.1:p.Pro120ArgfsTer12
XM_011532028.1:c.359del XP_011530330.1:p.Pro120ArgfsTer12
XR_244632.2:n.454del
NR_156488.1:n.446del
XM_011532028.2:c.359del XP_011530330.1:p.Pro120ArgfsTer12
NM_000297.4:c.359del MANE Select NP_000288.1:p.Pro120ArgfsTer12
NR_156488.2:n.458del
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