Canonical Allele Identifier: CA2671365191
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008005-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008009del , CM000666.2:g.88008009del GRCh38
NC_000004.11:g.88929161del , CM000666.1:g.88929161del GRCh37
NC_000004.10:g.89148185del NCBI36
NG_008604.1:g.5342del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.276del MANE Select ENSP00000237596.2:p.Gly93AlafsTer24
ENST00000237596.6:c.276del ENSP00000237596.2:p.Gly93AlafsTer24
NM_000297.3:c.276del NP_000288.1:p.Gly93AlafsTer24
XM_011532028.1:c.276del XP_011530330.1:p.Gly93AlafsTer24
XR_244632.2:n.371del
NR_156488.1:n.363del
XM_011532028.2:c.276del XP_011530330.1:p.Gly93AlafsTer24
NM_000297.4:c.276del MANE Select NP_000288.1:p.Gly93AlafsTer24
NR_156488.2:n.375del
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Search 100 bp 3'