Canonical Allele Identifier: CA2762537004
Gene: PKD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007755del , CM000666.2:g.88007755del GRCh38
NC_000004.11:g.88928907del , CM000666.1:g.88928907del GRCh37
NC_000004.10:g.89147931del NCBI36
NG_008604.1:g.5088del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.22del MANE Select ENSP00000237596.2:p.Gln8SerfsTer22
ENST00000237596.6:c.22del ENSP00000237596.2:p.Gln8SerfsTer22
NM_000297.3:c.22del NP_000288.1:p.Gln8SerfsTer22
XM_011532028.1:c.22del XP_011530330.1:p.Gln8SerfsTer22
XR_244632.2:n.117del
NR_156488.1:n.109del
XM_011532028.2:c.22del XP_011530330.1:p.Gln8SerfsTer22
NM_000297.4:c.22del MANE Select NP_000288.1:p.Gln8SerfsTer22
NR_156488.2:n.121del
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