Canonical Allele Identifier: CA2695222484
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2111642_2111645dup , CM000678.2:g.2111642_2111645dup GRCh38
NC_000016.9:g.2161643_2161646dup , CM000678.1:g.2161643_2161646dup GRCh37
NC_000016.8:g.2101644_2101647dup NCBI36
NG_008617.1:g.29256_29259dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.3524_3527dup MANE Select ENSP00000262304.4:p.Ala1177GlyfsTer?
ENST00000262304.8:c.3524_3527dup ENSP00000262304.4:p.Ala1177GlyfsTer?
ENST00000415938.7:n.310+697_310+700dup
ENST00000423118.5:c.3524_3527dup ENSP00000399501.1:p.Ala1177GlyfsTer?
ENST00000468674.5:n.430+697_430+700dup
ENST00000469241.2:n.474_477dup
ENST00000483024.1:c.233+173_233+176dup
ENST00000483731.5:n.790+697_790+700dup
ENST00000488185.2:c.473-3285_473-3282dup
ENST00000565639.6:n.773+697_773+700dup
ENST00000568591.5:c.2226+697_2226+700dup ENSP00000457162.1:n.2226+697_2226+700dup
ENST00000569983.5:n.421+697_421+700dup
NM_000296.3:c.3524_3527dup NP_000287.3:p.Ala1177GlyfsTer?
NM_001009944.2:c.3524_3527dup NP_001009944.2:p.Ala1177GlyfsTer?
XM_005255370.2:c.479_482dup XP_005255427.1:p.Ala162GlyfsTer?
XM_011522525.1:c.3602_3605dup XP_011520827.1:p.Ala1203GlyfsTer?
XM_011522526.1:c.3602_3605dup XP_011520828.1:p.Ala1203GlyfsTer?
XM_011522527.1:c.3602_3605dup XP_011520829.1:p.Ala1203GlyfsTer?
XM_011522528.1:c.3578_3581dup XP_011520830.1:p.Ala1195GlyfsTer?
XM_011522529.1:c.3578_3581dup XP_011520831.1:p.Ala1195GlyfsTer?
XM_011522530.1:c.3548_3551dup XP_011520832.1:p.Ala1185GlyfsTer?
XM_011522531.1:c.3530_3533dup XP_011520833.1:p.Ala1179GlyfsTer?
XM_011522532.1:c.3476_3479dup XP_011520834.1:p.Ala1161GlyfsTer?
XM_011522533.1:c.3395_3398dup XP_011520835.1:p.Ala1134GlyfsTer?
XM_011522534.1:c.3338_3341dup XP_011520836.1:p.Ala1115GlyfsTer?
XM_011522535.1:c.1424_1427dup XP_011520837.1:p.Ala477GlyfsTer?
XM_011522536.1:c.3602_3605dup XP_011520838.1:p.Ala1203GlyfsTer?
XM_011522537.1:c.602_605dup XP_011520839.1:p.Ala203GlyfsTer?
XR_932867.1:n.3617_3620dup
XR_932868.1:n.3617_3620dup
XR_932869.1:n.3617_3620dup
XR_932870.1:n.3617_3620dup
XM_005255370.3:c.479_482dup XP_005255427.1:p.Ala162GlyfsTer?
XM_011522528.3:c.3578_3581dup XP_011520830.1:p.Ala1195GlyfsTer?
XM_011522529.2:c.3578_3581dup XP_011520831.1:p.Ala1195GlyfsTer?
XM_011522537.2:c.602_605dup XP_011520839.1:p.Ala203GlyfsTer?
XM_024450298.1:c.3644_3647dup XP_024306066.1:p.Ala1217GlyfsTer?
XM_024450299.1:c.3572_3575dup XP_024306067.1:p.Ala1193GlyfsTer?
XM_024450300.1:c.3434_3437dup XP_024306068.1:p.Ala1147GlyfsTer?
XM_024450301.1:c.1520_1523dup XP_024306069.1:p.Ala509GlyfsTer?
NM_000296.4:c.3524_3527dup NP_000287.4:p.Ala1177GlyfsTer?
NM_001009944.3:c.3524_3527dup MANE Select NP_001009944.3:p.Ala1177GlyfsTer?