Canonical Allele Identifier: CA2578140380
Gene: PKD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007784del , CM000666.2:g.88007784del GRCh38
NC_000004.11:g.88928936del , CM000666.1:g.88928936del GRCh37
NC_000004.10:g.89147960del NCBI36
NG_008604.1:g.5117del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.51del MANE Select ENSP00000237596.2:p.Pro18ArgfsTer12
ENST00000237596.6:c.51del ENSP00000237596.2:p.Pro18ArgfsTer12
NM_000297.3:c.51del NP_000288.1:p.Pro18ArgfsTer12
XM_011532028.1:c.51del XP_011530330.1:p.Pro18ArgfsTer12
XR_244632.2:n.146del
NR_156488.1:n.138del
XM_011532028.2:c.51del XP_011530330.1:p.Pro18ArgfsTer12
NM_000297.4:c.51del MANE Select NP_000288.1:p.Pro18ArgfsTer12
NR_156488.2:n.150del
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