Canonical Allele Identifier: CA16609455
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 397591
ClinVar RCV Id: RCV000449609
dbSNP Id: rs1060499702

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2108744del , CM000678.2:g.2108744del GRCh38
NC_000016.9:g.2158745del , CM000678.1:g.2158745del GRCh37
NC_000016.8:g.2098746del NCBI36
NG_008617.1:g.32156del

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.6424del MANE Select ENSP00000262304.4:p.Gln2142ArgfsTer19
ENST00000262304.8:c.6424del ENSP00000262304.4:p.Gln2142ArgfsTer19
ENST00000415938.7:n.311-1795del
ENST00000423118.5:c.6424del ENSP00000399501.1:p.Gln2142ArgfsTer19
ENST00000483024.1:c.234-1795del
ENST00000483731.5:n.791-1795del
ENST00000487932.5:c.1111del ENSP00000457132.1:p.Gln371ArgfsTer19
ENST00000488185.2:c.473-385del
ENST00000565639.6:n.774-1795del
ENST00000568591.5:c.2227-1795del ENSP00000457162.1:n.2227-1795del
ENST00000569983.5:n.422-1795del
NM_000296.3:c.6424del NP_000287.3:p.Gln2142ArgfsTer19
NM_001009944.2:c.6424del NP_001009944.2:p.Gln2142ArgfsTer19
XM_005255370.2:c.3379del XP_005255427.1:p.Gln1127ArgfsTer19
XM_011522525.1:c.6502del XP_011520827.1:p.Gln2168ArgfsTer19
XM_011522526.1:c.6502del XP_011520828.1:p.Gln2168ArgfsTer19
XM_011522527.1:c.6502del XP_011520829.1:p.Gln2168ArgfsTer19
XM_011522528.1:c.6478del XP_011520830.1:p.Gln2160ArgfsTer19
XM_011522529.1:c.6478del XP_011520831.1:p.Gln2160ArgfsTer19
XM_011522530.1:c.6448del XP_011520832.1:p.Gln2150ArgfsTer19
XM_011522531.1:c.6430del XP_011520833.1:p.Gln2144ArgfsTer19
XM_011522532.1:c.6376del XP_011520834.1:p.Gln2126ArgfsTer19
XM_011522533.1:c.6295del XP_011520835.1:p.Gln2099ArgfsTer19
XM_011522534.1:c.6238del XP_011520836.1:p.Gln2080ArgfsTer19
XM_011522535.1:c.4324del XP_011520837.1:p.Gln1442ArgfsTer19
XM_011522536.1:c.6502del XP_011520838.1:p.Gln2168ArgfsTer19
XM_011522537.1:c.3502del XP_011520839.1:p.Gln1168ArgfsTer19
XR_932867.1:n.6517del
XR_932868.1:n.6517del
XR_932869.1:n.6517del
XR_932870.1:n.6517del
XM_005255370.3:c.3379del XP_005255427.1:p.Gln1127ArgfsTer19
XM_011522528.3:c.6478del XP_011520830.1:p.Gln2160ArgfsTer19
XM_011522529.2:c.6478del XP_011520831.1:p.Gln2160ArgfsTer19
XM_011522537.2:c.3502del XP_011520839.1:p.Gln1168ArgfsTer19
XM_024450298.1:c.6544del XP_024306066.1:p.Gln2182ArgfsTer19
XM_024450299.1:c.6472del XP_024306067.1:p.Gln2158ArgfsTer19
XM_024450300.1:c.6334del XP_024306068.1:p.Gln2112ArgfsTer19
XM_024450301.1:c.4420del XP_024306069.1:p.Gln1474ArgfsTer19
NM_000296.4:c.6424del NP_000287.4:p.Gln2142ArgfsTer19
NM_001009944.3:c.6424del MANE Select NP_001009944.3:p.Gln2142ArgfsTer19