Canonical Allele Identifier: CA2671365201
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008032-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008034del , CM000666.2:g.88008034del GRCh38
NC_000004.11:g.88929186del , CM000666.1:g.88929186del GRCh37
NC_000004.10:g.89148210del NCBI36
NG_008604.1:g.5367del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.301del MANE Select ENSP00000237596.2:p.Glu101ArgfsTer16
ENST00000237596.6:c.301del ENSP00000237596.2:p.Glu101ArgfsTer16
NM_000297.3:c.301del NP_000288.1:p.Glu101ArgfsTer16
XM_011532028.1:c.301del XP_011530330.1:p.Glu101ArgfsTer16
XR_244632.2:n.396del
NR_156488.1:n.388del
XM_011532028.2:c.301del XP_011530330.1:p.Glu101ArgfsTer16
NM_000297.4:c.301del MANE Select NP_000288.1:p.Glu101ArgfsTer16
NR_156488.2:n.400del
Search 100 bp 5'
Search 100 bp 3'