Canonical Allele Identifier: CA10587231
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2102386_2102387delinsGG , CM000678.2:g.2102386_2102387delinsGG GRCh38
NC_000016.9:g.2152387_2152388delinsGG , CM000678.1:g.2152387_2152388delinsGG GRCh37
NC_000016.8:g.2092388_2092389delinsGG NCBI36
NG_008617.1:g.40834_40835delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.9195_9196delinsCC MANE Select ENSP00000262304.4:p.Phe3066Leu
ENST00000262304.8:c.9195_9196delinsCC ENSP00000262304.4:p.Phe3066Leu
ENST00000415938.7:n.2274_2275delinsCC
ENST00000423118.5:c.9195_9196delinsCC ENSP00000399501.1:p.Phe3066Leu
ENST00000471603.6:n.839_840delinsCC
ENST00000474088.1:n.611_612delinsCC
ENST00000475889.1:n.504_505delinsCC
ENST00000480227.5:n.932_933delinsCC
ENST00000483731.5:n.3081_3082delinsCC
ENST00000486339.6:n.3331_3332delinsCC
ENST00000487932.5:c.3757_3758delinsCC ENSP00000457132.1:n.3757_3758delinsCC
ENST00000496574.6:n.3431_3432delinsCC
ENST00000562297.5:n.928_929delinsCC
ENST00000567946.1:c.797_798delinsCC
NM_000296.3:c.9195_9196delinsCC NP_000287.3:p.Phe3066Leu
NM_001009944.2:c.9195_9196delinsCC NP_001009944.2:p.Phe3066Leu
XM_005255370.2:c.6150_6151delinsCC XP_005255427.1:p.Phe2051Leu
XM_011522525.1:c.9273_9274delinsCC XP_011520827.1:p.Phe3092Leu
XM_011522526.1:c.9273_9274delinsCC XP_011520828.1:p.Phe3092Leu
XM_011522527.1:c.9261+12_9261+13delinsCC XP_011520829.1:n.9261+12_9261+13delinsCC
XM_011522528.1:c.9249_9250delinsCC XP_011520830.1:p.Phe3084Leu
XM_011522529.1:c.9249_9250delinsCC XP_011520831.1:p.Phe3084Leu
XM_011522530.1:c.9219_9220delinsCC XP_011520832.1:p.Phe3074Leu
XM_011522531.1:c.9201_9202delinsCC XP_011520833.1:p.Phe3068Leu
XM_011522532.1:c.9147_9148delinsCC XP_011520834.1:p.Phe3050Leu
XM_011522533.1:c.9066_9067delinsCC XP_011520835.1:p.Phe3023Leu
XM_011522534.1:c.9009_9010delinsCC XP_011520836.1:p.Phe3004Leu
XM_011522535.1:c.7095_7096delinsCC XP_011520837.1:p.Phe2366Leu
XM_011522536.1:c.9273_9274delinsCC XP_011520838.1:p.Phe3092Leu
XM_011522537.1:c.6273_6274delinsCC XP_011520839.1:p.Phe2092Leu
XR_932867.1:n.9288_9289delinsCC
XR_932868.1:n.9288_9289delinsCC
XR_932869.1:n.9288_9289delinsCC
XR_932870.1:n.9288_9289delinsCC
XM_005255370.3:c.6150_6151delinsCC XP_005255427.1:p.Phe2051Leu
XM_011522528.3:c.9249_9250delinsCC XP_011520830.1:p.Phe3084Leu
XM_011522529.2:c.9249_9250delinsCC XP_011520831.1:p.Phe3084Leu
XM_011522537.2:c.6273_6274delinsCC XP_011520839.1:p.Phe2092Leu
XM_024450298.1:c.9315_9316delinsCC XP_024306066.1:p.Phe3106Leu
XM_024450299.1:c.9243_9244delinsCC XP_024306067.1:p.Phe3082Leu
XM_024450300.1:c.9105_9106delinsCC XP_024306068.1:p.Phe3036Leu
XM_024450301.1:c.7191_7192delinsCC XP_024306069.1:p.Phe2398Leu
NM_000296.4:c.9195_9196delinsCC NP_000287.4:p.Phe3066Leu
NM_001009944.3:c.9195_9196delinsCC MANE Select NP_001009944.3:p.Phe3066Leu