Canonical Allele Identifier: CA2671365210
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008078-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008079del , CM000666.2:g.88008079del GRCh38
NC_000004.11:g.88929231del , CM000666.1:g.88929231del GRCh37
NC_000004.10:g.89148255del NCBI36
NG_008604.1:g.5412del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.346del MANE Select ENSP00000237596.2:p.Val116Ter
ENST00000237596.6:c.346del ENSP00000237596.2:p.Val116Ter
NM_000297.3:c.346del NP_000288.1:p.Val116Ter
XM_011532028.1:c.346del XP_011530330.1:p.Val116Ter
XR_244632.2:n.441del
NR_156488.1:n.433del
XM_011532028.2:c.346del XP_011530330.1:p.Val116Ter
NM_000297.4:c.346del MANE Select NP_000288.1:p.Val116Ter
NR_156488.2:n.445del
Search 100 bp 5'
Search 100 bp 3'