Canonical Allele Identifier: CA2695222229
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2106557_2106559dup , CM000678.2:g.2106557_2106559dup GRCh38
NC_000016.9:g.2156558_2156560dup , CM000678.1:g.2156558_2156560dup GRCh37
NC_000016.8:g.2096559_2096561dup NCBI36
NG_008617.1:g.34340_34342dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.7328_7330dup MANE Select ENSP00000262304.4:p.Tyr2444Ter
ENST00000262304.8:c.7328_7330dup ENSP00000262304.4:p.Tyr2444Ter
ENST00000415938.7:n.573_575dup
ENST00000423118.5:c.7328_7330dup ENSP00000399501.1:p.Tyr2444Ter
ENST00000483558.5:n.387_389dup
ENST00000483731.5:n.1053_1055dup
ENST00000486339.6:n.1074_1076dup
ENST00000487932.5:c.2015_2017dup ENSP00000457132.1:p.Tyr673Ter
ENST00000496574.6:n.1331_1333dup
ENST00000565639.6:n.1036_1038dup
ENST00000568591.5:c.2489_2491dup ENSP00000457162.1:n.2489_2491dup
ENST00000569983.5:n.684_686dup
NM_000296.3:c.7328_7330dup NP_000287.3:p.Tyr2444Ter
NM_001009944.2:c.7328_7330dup NP_001009944.2:p.Tyr2444Ter
XM_005255370.2:c.4283_4285dup XP_005255427.1:p.Tyr1429Ter
XM_011522525.1:c.7406_7408dup XP_011520827.1:p.Tyr2470Ter
XM_011522526.1:c.7406_7408dup XP_011520828.1:p.Tyr2470Ter
XM_011522527.1:c.7406_7408dup XP_011520829.1:p.Tyr2470Ter
XM_011522528.1:c.7382_7384dup XP_011520830.1:p.Tyr2462Ter
XM_011522529.1:c.7382_7384dup XP_011520831.1:p.Tyr2462Ter
XM_011522530.1:c.7352_7354dup XP_011520832.1:p.Tyr2452Ter
XM_011522531.1:c.7334_7336dup XP_011520833.1:p.Tyr2446Ter
XM_011522532.1:c.7280_7282dup XP_011520834.1:p.Tyr2428Ter
XM_011522533.1:c.7199_7201dup XP_011520835.1:p.Tyr2401Ter
XM_011522534.1:c.7142_7144dup XP_011520836.1:p.Tyr2382Ter
XM_011522535.1:c.5228_5230dup XP_011520837.1:p.Tyr1744Ter
XM_011522536.1:c.7406_7408dup XP_011520838.1:p.Tyr2470Ter
XM_011522537.1:c.4406_4408dup XP_011520839.1:p.Tyr1470Ter
XR_932867.1:n.7421_7423dup
XR_932868.1:n.7421_7423dup
XR_932869.1:n.7421_7423dup
XR_932870.1:n.7421_7423dup
XM_005255370.3:c.4283_4285dup XP_005255427.1:p.Tyr1429Ter
XM_011522528.3:c.7382_7384dup XP_011520830.1:p.Tyr2462Ter
XM_011522529.2:c.7382_7384dup XP_011520831.1:p.Tyr2462Ter
XM_011522537.2:c.4406_4408dup XP_011520839.1:p.Tyr1470Ter
XM_024450298.1:c.7448_7450dup XP_024306066.1:p.Tyr2484Ter
XM_024450299.1:c.7376_7378dup XP_024306067.1:p.Tyr2460Ter
XM_024450300.1:c.7238_7240dup XP_024306068.1:p.Tyr2414Ter
XM_024450301.1:c.5324_5326dup XP_024306069.1:p.Tyr1776Ter
NM_000296.4:c.7328_7330dup NP_000287.4:p.Tyr2444Ter
NM_001009944.3:c.7328_7330dup MANE Select NP_001009944.3:p.Tyr2444Ter