Canonical Allele Identifier: CA2671365175
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007776-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007778del , CM000666.2:g.88007778del GRCh38
NC_000004.11:g.88928930del , CM000666.1:g.88928930del GRCh37
NC_000004.10:g.89147954del NCBI36
NG_008604.1:g.5111del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.45del MANE Select ENSP00000237596.2:p.Lys16SerfsTer14
ENST00000237596.6:c.45del ENSP00000237596.2:p.Lys16SerfsTer14
NM_000297.3:c.45del NP_000288.1:p.Lys16SerfsTer14
XM_011532028.1:c.45del XP_011530330.1:p.Lys16SerfsTer14
XR_244632.2:n.140del
NR_156488.1:n.132del
XM_011532028.2:c.45del XP_011530330.1:p.Lys16SerfsTer14
NM_000297.4:c.45del MANE Select NP_000288.1:p.Lys16SerfsTer14
NR_156488.2:n.144del
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