Canonical Allele Identifier: CA1474562161
Gene: PKD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007787_88007788delinsGC , CM000666.2:g.88007787_88007788delinsGC GRCh38
NC_000004.11:g.88928939_88928940delinsGC , CM000666.1:g.88928939_88928940delinsGC GRCh37
NC_000004.10:g.89147963_89147964delinsGC NCBI36
NG_008604.1:g.5120_5121delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.54_55delinsGC MANE Select ENSP00000237596.2:p.Pro18=
ENST00000237596.6:c.54_55delinsGC ENSP00000237596.2:p.Pro18=
NM_000297.3:c.54_55delinsGC NP_000288.1:p.Pro18=
XM_011532028.1:c.54_55delinsGC XP_011530330.1:p.Pro18=
XR_244632.2:n.149_150delinsGC
NR_156488.1:n.141_142delinsGC
XM_011532028.2:c.54_55delinsGC XP_011530330.1:p.Pro18=
NM_000297.4:c.54_55delinsGC MANE Select NP_000288.1:p.Pro18=
NR_156488.2:n.153_154delinsGC
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