Canonical Allele Identifier: CA2838032798
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2106582_2106586del , CM000678.2:g.2106582_2106586del GRCh38
NC_000016.9:g.2156583_2156587del , CM000678.1:g.2156583_2156587del GRCh37
NC_000016.8:g.2096584_2096588del NCBI36
NG_008617.1:g.34317_34321del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.7305_7309del MANE Select ENSP00000262304.4:p.Gly2436AlafsTer?
ENST00000262304.8:c.7305_7309del ENSP00000262304.4:p.Gly2436AlafsTer?
ENST00000415938.7:n.550_554del
ENST00000423118.5:c.7305_7309del ENSP00000399501.1:p.Gly2436AlafsTer?
ENST00000483558.5:n.364_368del
ENST00000483731.5:n.1030_1034del
ENST00000486339.6:n.1051_1055del
ENST00000487932.5:c.1992_1996del ENSP00000457132.1:p.Gly665AlafsTer?
ENST00000496574.6:n.1308_1312del
ENST00000565639.6:n.1013_1017del
ENST00000568591.5:c.2466_2470del ENSP00000457162.1:n.2466_2470del
ENST00000569983.5:n.661_665del
NM_000296.3:c.7305_7309del NP_000287.3:p.Gly2436AlafsTer?
NM_001009944.2:c.7305_7309del NP_001009944.2:p.Gly2436AlafsTer?
XM_005255370.2:c.4260_4264del XP_005255427.1:p.Gly1421AlafsTer?
XM_011522525.1:c.7383_7387del XP_011520827.1:p.Gly2462AlafsTer?
XM_011522526.1:c.7383_7387del XP_011520828.1:p.Gly2462AlafsTer?
XM_011522527.1:c.7383_7387del XP_011520829.1:p.Gly2462AlafsTer?
XM_011522528.1:c.7359_7363del XP_011520830.1:p.Gly2454AlafsTer?
XM_011522529.1:c.7359_7363del XP_011520831.1:p.Gly2454AlafsTer?
XM_011522530.1:c.7329_7333del XP_011520832.1:p.Gly2444AlafsTer?
XM_011522531.1:c.7311_7315del XP_011520833.1:p.Gly2438AlafsTer?
XM_011522532.1:c.7257_7261del XP_011520834.1:p.Gly2420AlafsTer?
XM_011522533.1:c.7176_7180del XP_011520835.1:p.Gly2393AlafsTer?
XM_011522534.1:c.7119_7123del XP_011520836.1:p.Gly2374AlafsTer?
XM_011522535.1:c.5205_5209del XP_011520837.1:p.Gly1736AlafsTer?
XM_011522536.1:c.7383_7387del XP_011520838.1:p.Gly2462AlafsTer?
XM_011522537.1:c.4383_4387del XP_011520839.1:p.Gly1462AlafsTer?
XR_932867.1:n.7398_7402del
XR_932868.1:n.7398_7402del
XR_932869.1:n.7398_7402del
XR_932870.1:n.7398_7402del
XM_005255370.3:c.4260_4264del XP_005255427.1:p.Gly1421AlafsTer?
XM_011522528.3:c.7359_7363del XP_011520830.1:p.Gly2454AlafsTer?
XM_011522529.2:c.7359_7363del XP_011520831.1:p.Gly2454AlafsTer?
XM_011522537.2:c.4383_4387del XP_011520839.1:p.Gly1462AlafsTer?
XM_024450298.1:c.7425_7429del XP_024306066.1:p.Gly2476AlafsTer?
XM_024450299.1:c.7353_7357del XP_024306067.1:p.Gly2452AlafsTer?
XM_024450300.1:c.7215_7219del XP_024306068.1:p.Gly2406AlafsTer?
XM_024450301.1:c.5301_5305del XP_024306069.1:p.Gly1768AlafsTer?
NM_000296.4:c.7305_7309del NP_000287.4:p.Gly2436AlafsTer?
NM_001009944.3:c.7305_7309del MANE Select NP_001009944.3:p.Gly2436AlafsTer?