Canonical Allele Identifier: CA2762537688
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88046953_88046954insATAGAATAGGAAATTTGGTGTTGT , CM000666.2:g.88046953_88046954insATAGAATAGGAAATTTGGTGTTGT GRCh38
NC_000004.11:g.88968105_88968106insATAGAATAGGAAATTTGGTGTTGT , CM000666.1:g.88968105_88968106insATAGAATAGGAAATTTGGTGTTGT GRCh37
NC_000004.10:g.89187129_89187130insATAGAATAGGAAATTTGGTGTTGT NCBI36
NG_008604.1:g.44286_44287insATAGAATAGGAAATTTGGTGTTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1548+83_1548+84insATAGAATAGGAAATTTGGTGTTGT MANE Select ENSP00000237596.2:n.1548+83_1548+84insATAGAATAGGAAATTTGGTGTTG...
ENST00000237596.6:c.1548+83_1548+84insATAGAATAGGAAATTTGGTGTTGT ENSP00000237596.2:n.1548+83_1548+84insATAGAATAGGAAATTTGGTGTTG...
ENST00000508588.5:c.-199+3496_-199+3497insATAGAATAGGAAATTTGGTGTTGT ENSP00000427131.1:n.-199+3496_-199+3497insATAGAATAGGAAATTTGGT...
NM_000297.3:c.1548+83_1548+84insATAGAATAGGAAATTTGGTGTTGT NP_000288.1:n.1548+83_1548+84insATAGAATAGGAAATTTGGTGTTGT
XM_011532028.1:c.1323+83_1323+84insATAGAATAGGAAATTTGGTGTTGT XP_011530330.1:n.1323+83_1323+84insATAGAATAGGAAATTTGGTGTTGT
XM_011532029.1:c.828+83_828+84insATAGAATAGGAAATTTGGTGTTGT XP_011530331.1:n.828+83_828+84insATAGAATAGGAAATTTGGTGTTGT
XM_011532030.1:c.708+83_708+84insATAGAATAGGAAATTTGGTGTTGT XP_011530332.1:n.708+83_708+84insATAGAATAGGAAATTTGGTGTTGT
XR_244632.2:n.1643+83_1643+84insATAGAATAGGAAATTTGGTGTTGT
NR_156488.1:n.1635+83_1635+84insATAGAATAGGAAATTTGGTGTTGT
XM_011532028.2:c.1323+83_1323+84insATAGAATAGGAAATTTGGTGTTGT XP_011530330.1:n.1323+83_1323+84insATAGAATAGGAAATTTGGTGTTGT
XM_011532030.2:c.708+83_708+84insATAGAATAGGAAATTTGGTGTTGT XP_011530332.1:n.708+83_708+84insATAGAATAGGAAATTTGGTGTTGT
NM_000297.4:c.1548+83_1548+84insATAGAATAGGAAATTTGGTGTTGT MANE Select NP_000288.1:n.1548+83_1548+84insATAGAATAGGAAATTTGGTGTTGT
NR_156488.2:n.1647+83_1647+84insATAGAATAGGAAATTTGGTGTTGT