Canonical Allele Identifier: CA2837995383
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2111660_2111661dup , CM000678.2:g.2111660_2111661dup GRCh38
NC_000016.9:g.2161661_2161662dup , CM000678.1:g.2161661_2161662dup GRCh37
NC_000016.8:g.2101662_2101663dup NCBI36
NG_008617.1:g.29238_29239dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.3506_3507dup MANE Select ENSP00000262304.4:p.Leu1170SerfsTer2
ENST00000262304.8:c.3506_3507dup ENSP00000262304.4:p.Leu1170SerfsTer2
ENST00000415938.7:n.310+679_310+680dup
ENST00000423118.5:c.3506_3507dup ENSP00000399501.1:p.Leu1170SerfsTer2
ENST00000468674.5:n.430+679_430+680dup
ENST00000469241.2:n.456_457dup
ENST00000483024.1:c.233+155_233+156dup
ENST00000483731.5:n.790+679_790+680dup
ENST00000488185.2:c.473-3303_473-3302dup
ENST00000565639.6:n.773+679_773+680dup
ENST00000568591.5:c.2226+679_2226+680dup ENSP00000457162.1:n.2226+679_2226+680dup
ENST00000569983.5:n.421+679_421+680dup
NM_000296.3:c.3506_3507dup NP_000287.3:p.Leu1170SerfsTer2
NM_001009944.2:c.3506_3507dup NP_001009944.2:p.Leu1170SerfsTer2
XM_005255370.2:c.461_462dup XP_005255427.1:p.Leu155SerfsTer2
XM_011522525.1:c.3584_3585dup XP_011520827.1:p.Leu1196SerfsTer2
XM_011522526.1:c.3584_3585dup XP_011520828.1:p.Leu1196SerfsTer2
XM_011522527.1:c.3584_3585dup XP_011520829.1:p.Leu1196SerfsTer2
XM_011522528.1:c.3560_3561dup XP_011520830.1:p.Leu1188SerfsTer2
XM_011522529.1:c.3560_3561dup XP_011520831.1:p.Leu1188SerfsTer2
XM_011522530.1:c.3530_3531dup XP_011520832.1:p.Leu1178SerfsTer2
XM_011522531.1:c.3512_3513dup XP_011520833.1:p.Leu1172SerfsTer2
XM_011522532.1:c.3458_3459dup XP_011520834.1:p.Leu1154SerfsTer2
XM_011522533.1:c.3377_3378dup XP_011520835.1:p.Leu1127SerfsTer2
XM_011522534.1:c.3320_3321dup XP_011520836.1:p.Leu1108SerfsTer2
XM_011522535.1:c.1406_1407dup XP_011520837.1:p.Leu470SerfsTer2
XM_011522536.1:c.3584_3585dup XP_011520838.1:p.Leu1196SerfsTer2
XM_011522537.1:c.584_585dup XP_011520839.1:p.Leu196SerfsTer2
XR_932867.1:n.3599_3600dup
XR_932868.1:n.3599_3600dup
XR_932869.1:n.3599_3600dup
XR_932870.1:n.3599_3600dup
XM_005255370.3:c.461_462dup XP_005255427.1:p.Leu155SerfsTer2
XM_011522528.3:c.3560_3561dup XP_011520830.1:p.Leu1188SerfsTer2
XM_011522529.2:c.3560_3561dup XP_011520831.1:p.Leu1188SerfsTer2
XM_011522537.2:c.584_585dup XP_011520839.1:p.Leu196SerfsTer2
XM_024450298.1:c.3626_3627dup XP_024306066.1:p.Leu1210SerfsTer2
XM_024450299.1:c.3554_3555dup XP_024306067.1:p.Leu1186SerfsTer2
XM_024450300.1:c.3416_3417dup XP_024306068.1:p.Leu1140SerfsTer2
XM_024450301.1:c.1502_1503dup XP_024306069.1:p.Leu502SerfsTer2
NM_000296.4:c.3506_3507dup NP_000287.4:p.Leu1170SerfsTer2
NM_001009944.3:c.3506_3507dup MANE Select NP_001009944.3:p.Leu1170SerfsTer2