Canonical Allele Identifier: CA16043406
Gene: PKD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88036327_88036328del , CM000666.2:g.88036327_88036328del GRCh38
NC_000004.11:g.88957479_88957480del , CM000666.1:g.88957479_88957480del GRCh37
NC_000004.10:g.89176503_89176504del NCBI36
NG_008604.1:g.33660_33661del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.817_818del MANE Select ENSP00000237596.2:p.Leu273ValfsTer29
ENST00000237596.6:c.817_818del ENSP00000237596.2:p.Leu273ValfsTer29
ENST00000506367.1:n.264_265del
ENST00000506727.1:n.403_404del
NM_000297.3:c.817_818del NP_000288.1:p.Leu273ValfsTer29
XM_011532028.1:c.817_818del XP_011530330.1:p.Leu273ValfsTer29
XM_011532029.1:c.97_98del XP_011530331.1:p.Leu33ValfsTer29
XR_244632.2:n.912_913del
NR_156488.1:n.904_905del
XM_011532028.2:c.817_818del XP_011530330.1:p.Leu273ValfsTer29
XM_011532030.2:c.-151_-150del XP_011530332.1:n.-151_-150del
NM_000297.4:c.817_818del MANE Select NP_000288.1:p.Leu273ValfsTer29
NR_156488.2:n.916_917del
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