Canonical Allele Identifier: CA2580090946
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1802202
ClinVar RCV Id: RCV002465015

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2106530_2106531insCCCAGCACCGTGAGCGTGAAGGTGTAT , CM000678.2:g.2106530_2106531insCCCAGCACCGTGAGCGTGAAGGTGTAT GRCh38
NC_000016.9:g.2156531_2156532insCCCAGCACCGTGAGCGTGAAGGTGTAT , CM000678.1:g.2156531_2156532insCCCAGCACCGTGAGCGTGAAGGTGTAT GRCh37
NC_000016.8:g.2096532_2096533insCCCAGCACCGTGAGCGTGAAGGTGTAT NCBI36
NG_008617.1:g.34368_34369insATACACCTTCACGCTCACGGTGCTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG MANE Select ENSP00000262304.4:p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAl...
ENST00000262304.8:c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG ENSP00000262304.4:p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAl...
ENST00000415938.7:n.601_602insATACACCTTCACGCTCACGGTGCTGGG
ENST00000423118.5:c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG ENSP00000399501.1:p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAl...
ENST00000483558.5:n.415_416insATACACCTTCACGCTCACGGTGCTGGG
ENST00000483731.5:n.1081_1082insATACACCTTCACGCTCACGGTGCTGGG
ENST00000486339.6:n.1102_1103insATACACCTTCACGCTCACGGTGCTGGG
ENST00000487932.5:c.2043_2044insATACACCTTCACGCTCACGGTGCTGGG ENSP00000457132.1:p.Gly681_Arg682insIleHisLeuHisAlaHisGlyAlaG...
ENST00000496574.6:n.1359_1360insATACACCTTCACGCTCACGGTGCTGGG
ENST00000565639.6:n.1064_1065insATACACCTTCACGCTCACGGTGCTGGG
ENST00000568591.5:c.2517_2518insATACACCTTCACGCTCACGGTGCTGGG ENSP00000457162.1:n.2517_2518insATACACCTTCACGCTCACGGTGCTGGG
ENST00000569983.5:n.712_713insATACACCTTCACGCTCACGGTGCTGGG
NM_000296.3:c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG NP_000287.3:p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAlaGly
NM_001009944.2:c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG NP_001009944.2:p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAlaGl...
XM_005255370.2:c.4311_4312insATACACCTTCACGCTCACGGTGCTGGG XP_005255427.1:p.Gly1437_Arg1438insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522525.1:c.7434_7435insATACACCTTCACGCTCACGGTGCTGGG XP_011520827.1:p.Gly2478_Arg2479insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522526.1:c.7434_7435insATACACCTTCACGCTCACGGTGCTGGG XP_011520828.1:p.Gly2478_Arg2479insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522527.1:c.7434_7435insATACACCTTCACGCTCACGGTGCTGGG XP_011520829.1:p.Gly2478_Arg2479insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522528.1:c.7410_7411insATACACCTTCACGCTCACGGTGCTGGG XP_011520830.1:p.Gly2470_Arg2471insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522529.1:c.7410_7411insATACACCTTCACGCTCACGGTGCTGGG XP_011520831.1:p.Gly2470_Arg2471insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522530.1:c.7380_7381insATACACCTTCACGCTCACGGTGCTGGG XP_011520832.1:p.Gly2460_Arg2461insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522531.1:c.7362_7363insATACACCTTCACGCTCACGGTGCTGGG XP_011520833.1:p.Gly2454_Arg2455insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522532.1:c.7308_7309insATACACCTTCACGCTCACGGTGCTGGG XP_011520834.1:p.Gly2436_Arg2437insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522533.1:c.7227_7228insATACACCTTCACGCTCACGGTGCTGGG XP_011520835.1:p.Gly2409_Arg2410insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522534.1:c.7170_7171insATACACCTTCACGCTCACGGTGCTGGG XP_011520836.1:p.Gly2390_Arg2391insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522535.1:c.5256_5257insATACACCTTCACGCTCACGGTGCTGGG XP_011520837.1:p.Gly1752_Arg1753insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522536.1:c.7434_7435insATACACCTTCACGCTCACGGTGCTGGG XP_011520838.1:p.Gly2478_Arg2479insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522537.1:c.4434_4435insATACACCTTCACGCTCACGGTGCTGGG XP_011520839.1:p.Gly1478_Arg1479insIleHisLeuHisAlaHisGlyAlaGl...
XR_932867.1:n.7449_7450insATACACCTTCACGCTCACGGTGCTGGG
XR_932868.1:n.7449_7450insATACACCTTCACGCTCACGGTGCTGGG
XR_932869.1:n.7449_7450insATACACCTTCACGCTCACGGTGCTGGG
XR_932870.1:n.7449_7450insATACACCTTCACGCTCACGGTGCTGGG
XM_005255370.3:c.4311_4312insATACACCTTCACGCTCACGGTGCTGGG XP_005255427.1:p.Gly1437_Arg1438insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522528.3:c.7410_7411insATACACCTTCACGCTCACGGTGCTGGG XP_011520830.1:p.Gly2470_Arg2471insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522529.2:c.7410_7411insATACACCTTCACGCTCACGGTGCTGGG XP_011520831.1:p.Gly2470_Arg2471insIleHisLeuHisAlaHisGlyAlaGl...
XM_011522537.2:c.4434_4435insATACACCTTCACGCTCACGGTGCTGGG XP_011520839.1:p.Gly1478_Arg1479insIleHisLeuHisAlaHisGlyAlaGl...
XM_024450298.1:c.7476_7477insATACACCTTCACGCTCACGGTGCTGGG XP_024306066.1:p.Gly2492_Arg2493insIleHisLeuHisAlaHisGlyAlaGl...
XM_024450299.1:c.7404_7405insATACACCTTCACGCTCACGGTGCTGGG XP_024306067.1:p.Gly2468_Arg2469insIleHisLeuHisAlaHisGlyAlaGl...
XM_024450300.1:c.7266_7267insATACACCTTCACGCTCACGGTGCTGGG XP_024306068.1:p.Gly2422_Arg2423insIleHisLeuHisAlaHisGlyAlaGl...
XM_024450301.1:c.5352_5353insATACACCTTCACGCTCACGGTGCTGGG XP_024306069.1:p.Gly1784_Arg1785insIleHisLeuHisAlaHisGlyAlaGl...
NM_000296.4:c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG NP_000287.4:p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAlaGly
NM_001009944.3:c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG MANE Select NP_001009944.3:p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAlaGl...