Canonical Allele Identifier: CA2671365181
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007807-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007810del , CM000666.2:g.88007810del GRCh38
NC_000004.11:g.88928962del , CM000666.1:g.88928962del GRCh37
NC_000004.10:g.89147986del NCBI36
NG_008604.1:g.5143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.77del MANE Select ENSP00000237596.2:p.Pro26ArgfsTer4
ENST00000237596.6:c.77del ENSP00000237596.2:p.Pro26ArgfsTer4
NM_000297.3:c.77del NP_000288.1:p.Pro26ArgfsTer4
XM_011532028.1:c.77del XP_011530330.1:p.Pro26ArgfsTer4
XR_244632.2:n.172del
NR_156488.1:n.164del
XM_011532028.2:c.77del XP_011530330.1:p.Pro26ArgfsTer4
NM_000297.4:c.77del MANE Select NP_000288.1:p.Pro26ArgfsTer4
NR_156488.2:n.176del
Search 100 bp 5'
Search 100 bp 3'