Canonical Allele Identifier: CA2695222475
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2111545_2111546insACAC , CM000678.2:g.2111545_2111546insACAC GRCh38
NC_000016.9:g.2161546_2161547insACAC , CM000678.1:g.2161546_2161547insACAC GRCh37
NC_000016.8:g.2101547_2101548insACAC NCBI36
NG_008617.1:g.29355_29356insGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.3623_3624insGTGT MANE Select ENSP00000262304.4:p.Phe1209CysfsTer3
ENST00000262304.8:c.3623_3624insGTGT ENSP00000262304.4:p.Phe1209CysfsTer3
ENST00000415938.7:n.310+796_310+797insGTGT
ENST00000423118.5:c.3623_3624insGTGT ENSP00000399501.1:p.Phe1209CysfsTer3
ENST00000468674.5:n.430+796_430+797insGTGT
ENST00000469241.2:n.573_574insGTGT
ENST00000483024.1:c.233+272_233+273insGTGT
ENST00000483731.5:n.790+796_790+797insGTGT
ENST00000488185.2:c.473-3186_473-3185insGTGT
ENST00000565639.6:n.773+796_773+797insGTGT
ENST00000568591.5:c.2226+796_2226+797insGTGT ENSP00000457162.1:n.2226+796_2226+797insGTGT
ENST00000569983.5:n.421+796_421+797insGTGT
NM_000296.3:c.3623_3624insGTGT NP_000287.3:p.Phe1209CysfsTer3
NM_001009944.2:c.3623_3624insGTGT NP_001009944.2:p.Phe1209CysfsTer3
XM_005255370.2:c.578_579insGTGT XP_005255427.1:p.Phe194CysfsTer3
XM_011522525.1:c.3701_3702insGTGT XP_011520827.1:p.Phe1235CysfsTer3
XM_011522526.1:c.3701_3702insGTGT XP_011520828.1:p.Phe1235CysfsTer3
XM_011522527.1:c.3701_3702insGTGT XP_011520829.1:p.Phe1235CysfsTer3
XM_011522528.1:c.3677_3678insGTGT XP_011520830.1:p.Phe1227CysfsTer3
XM_011522529.1:c.3677_3678insGTGT XP_011520831.1:p.Phe1227CysfsTer3
XM_011522530.1:c.3647_3648insGTGT XP_011520832.1:p.Phe1217CysfsTer3
XM_011522531.1:c.3629_3630insGTGT XP_011520833.1:p.Phe1211CysfsTer3
XM_011522532.1:c.3575_3576insGTGT XP_011520834.1:p.Phe1193CysfsTer3
XM_011522533.1:c.3494_3495insGTGT XP_011520835.1:p.Phe1166CysfsTer3
XM_011522534.1:c.3437_3438insGTGT XP_011520836.1:p.Phe1147CysfsTer3
XM_011522535.1:c.1523_1524insGTGT XP_011520837.1:p.Phe509CysfsTer3
XM_011522536.1:c.3701_3702insGTGT XP_011520838.1:p.Phe1235CysfsTer3
XM_011522537.1:c.701_702insGTGT XP_011520839.1:p.Phe235CysfsTer3
XR_932867.1:n.3716_3717insGTGT
XR_932868.1:n.3716_3717insGTGT
XR_932869.1:n.3716_3717insGTGT
XR_932870.1:n.3716_3717insGTGT
XM_005255370.3:c.578_579insGTGT XP_005255427.1:p.Phe194CysfsTer3
XM_011522528.3:c.3677_3678insGTGT XP_011520830.1:p.Phe1227CysfsTer3
XM_011522529.2:c.3677_3678insGTGT XP_011520831.1:p.Phe1227CysfsTer3
XM_011522537.2:c.701_702insGTGT XP_011520839.1:p.Phe235CysfsTer3
XM_024450298.1:c.3743_3744insGTGT XP_024306066.1:p.Phe1249CysfsTer3
XM_024450299.1:c.3671_3672insGTGT XP_024306067.1:p.Phe1225CysfsTer3
XM_024450300.1:c.3533_3534insGTGT XP_024306068.1:p.Phe1179CysfsTer3
XM_024450301.1:c.1619_1620insGTGT XP_024306069.1:p.Phe541CysfsTer3
NM_000296.4:c.3623_3624insGTGT NP_000287.4:p.Phe1209CysfsTer3
NM_001009944.3:c.3623_3624insGTGT MANE Select NP_001009944.3:p.Phe1209CysfsTer3