Canonical Allele Identifier: CA2671365006
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007646-GGCGCCGGGAAGAAAGGAACATGGCTCCTGAGGCGCACAGCGCCGA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007651_88007695del , CM000666.2:g.88007651_88007695del GRCh38
NC_000004.11:g.88928803_88928847del , CM000666.1:g.88928803_88928847del GRCh37
NC_000004.10:g.89147827_89147871del NCBI36
NG_008604.1:g.4984_5028del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-83_-39del MANE Select ENSP00000237596.2:n.-83_-39del
NM_000297.3:c.-83_-39del NP_000288.1:n.-83_-39del
XM_011532028.1:c.-83_-39del XP_011530330.1:n.-83_-39del
XR_244632.2:n.13_57del
NR_156488.1:n.5_49del
NM_000297.4:c.-83_-39del MANE Select NP_000288.1:n.-83_-39del
NR_156488.2:n.17_61del
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