Canonical Allele Identifier: CA2671365168
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007743-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007745del , CM000666.2:g.88007745del GRCh38
NC_000004.11:g.88928897del , CM000666.1:g.88928897del GRCh37
NC_000004.10:g.89147921del NCBI36
NG_008604.1:g.5078del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.12del MANE Select ENSP00000237596.2:p.Ser5ValfsTer25
ENST00000237596.6:c.12del ENSP00000237596.2:p.Ser5ValfsTer25
NM_000297.3:c.12del NP_000288.1:p.Ser5ValfsTer25
XM_011532028.1:c.12del XP_011530330.1:p.Ser5ValfsTer25
XR_244632.2:n.107del
NR_156488.1:n.99del
XM_011532028.2:c.12del XP_011530330.1:p.Ser5ValfsTer25
NM_000297.4:c.12del MANE Select NP_000288.1:p.Ser5ValfsTer25
NR_156488.2:n.111del
Search 100 bp 5'
Search 100 bp 3'