Canonical Allele Identifier: CA10654922
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 369961
ClinVar RCV Id: RCV000408785
dbSNP Id: rs1057516202

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2100027_2100029del , CM000678.2:g.2100027_2100029del GRCh38
NC_000016.9:g.2150028_2150030del , CM000678.1:g.2150028_2150030del GRCh37
NC_000016.8:g.2090029_2090031del NCBI36
NG_008617.1:g.43192_43194del

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.9755_9757del MANE Select ENSP00000262304.4:p.Glu3252_Leu3253delins...
ENST00000262304.8:c.9755_9757del ENSP00000262304.4:p.Glu3252_Leu3253delins...
ENST00000415938.7:n.2834_2836del
ENST00000423118.5:c.9755_9757del ENSP00000399501.1:p.Glu3252_Leu3253delins...
ENST00000469851.1:n.564_566del
ENST00000471603.6:n.1399_1401del
ENST00000480227.5:n.1492_1494del
ENST00000483731.5:n.3641_3643del
ENST00000483814.1:n.557_559del
ENST00000486339.6:n.3891_3893del
ENST00000487932.5:c.4317_4319del ENSP00000457132.1:n.4317_4319del
ENST00000496574.6:n.3991_3993del
ENST00000562297.5:n.1488_1490del
ENST00000566905.5:n.245_247del
ENST00000567946.1:c.1357_1359del
ENST00000570193.5:n.199_201del
ENST00000570253.5:n.178_180del
NM_000296.3:c.9755_9757del NP_000287.3:p.Glu3252_Leu3253delinsVal
NM_001009944.2:c.9755_9757del NP_001009944.2:p.Glu3252_Leu3253delinsVal...
XM_005255370.2:c.6710_6712del XP_005255427.1:p.Glu2237_Leu2238delinsVal...
XM_011522525.1:c.9833_9835del XP_011520827.1:p.Glu3278_Leu3279delinsVal...
XM_011522526.1:c.9833_9835del XP_011520828.1:p.Glu3278_Leu3279delinsVal...
XM_011522527.1:c.9815_9817del XP_011520829.1:p.Glu3272_Leu3273delinsVal...
XM_011522528.1:c.9809_9811del XP_011520830.1:p.Glu3270_Leu3271delinsVal...
XM_011522529.1:c.9809_9811del XP_011520831.1:p.Glu3270_Leu3271delinsVal...
XM_011522530.1:c.9779_9781del XP_011520832.1:p.Glu3260_Leu3261delinsVal...
XM_011522531.1:c.9761_9763del XP_011520833.1:p.Glu3254_Leu3255delinsVal...
XM_011522532.1:c.9707_9709del XP_011520834.1:p.Glu3236_Leu3237delinsVal...
XM_011522533.1:c.9626_9628del XP_011520835.1:p.Glu3209_Leu3210delinsVal...
XM_011522534.1:c.9569_9571del XP_011520836.1:p.Glu3190_Leu3191delinsVal...
XM_011522535.1:c.7655_7657del XP_011520837.1:p.Glu2552_Leu2553delinsVal...
XM_011522536.1:c.9833_9835del XP_011520838.1:p.Glu3278_Leu3279delinsVal...
XM_011522537.1:c.6833_6835del XP_011520839.1:p.Glu2278_Leu2279delinsVal...
XR_932867.1:n.9848_9850del
XR_932868.1:n.9848_9850del
XR_932869.1:n.9848_9850del
XR_932870.1:n.9848_9850del
XM_005255370.3:c.6710_6712del XP_005255427.1:p.Glu2237_Leu2238delinsVal...
XM_011522528.3:c.9809_9811del XP_011520830.1:p.Glu3270_Leu3271delinsVal...
XM_011522529.2:c.9809_9811del XP_011520831.1:p.Glu3270_Leu3271delinsVal...
XM_011522537.2:c.6833_6835del XP_011520839.1:p.Glu2278_Leu2279delinsVal...
XM_024450298.1:c.9875_9877del XP_024306066.1:p.Glu3292_Leu3293delinsVal...
XM_024450299.1:c.9803_9805del XP_024306067.1:p.Glu3268_Leu3269delinsVal...
XM_024450300.1:c.9665_9667del XP_024306068.1:p.Glu3222_Leu3223delinsVal...
XM_024450301.1:c.7751_7753del XP_024306069.1:p.Glu2584_Leu2585delinsVal...
NM_000296.4:c.9755_9757del NP_000287.4:p.Glu3252_Leu3253delinsVal
NM_001009944.3:c.9755_9757del MANE Select NP_001009944.3:p.Glu3252_Leu3253delinsVal...