Canonical Allele Identifier: CA2631142024
Gene: PKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2114580del , CM000678.2:g.2114580del GRCh38
NC_000016.9:g.2164581del , CM000678.1:g.2164581del GRCh37
NC_000016.8:g.2104582del NCBI36
NG_008617.1:g.26321del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.2445del MANE Select ENSP00000262304.4:p.Phe815LeufsTer?
ENST00000262304.8:c.2445del ENSP00000262304.4:p.Phe815LeufsTer?
ENST00000423118.5:c.2445del ENSP00000399501.1:p.Phe815LeufsTer?
ENST00000488185.2:c.472+2911del
ENST00000568591.5:c.1376del ENSP00000457162.1:n.1376del
NM_000296.3:c.2445del NP_000287.3:p.Phe815LeufsTer?
NM_001009944.2:c.2445del NP_001009944.2:p.Phe815LeufsTer?
XM_011522525.1:c.2499del XP_011520827.1:p.Phe833LeufsTer?
XM_011522526.1:c.2499del XP_011520828.1:p.Phe833LeufsTer?
XM_011522527.1:c.2499del XP_011520829.1:p.Phe833LeufsTer?
XM_011522528.1:c.2499del XP_011520830.1:p.Phe833LeufsTer?
XM_011522529.1:c.2499del XP_011520831.1:p.Phe833LeufsTer?
XM_011522530.1:c.2445del XP_011520832.1:p.Phe815LeufsTer?
XM_011522531.1:c.2427del XP_011520833.1:p.Phe809LeufsTer?
XM_011522532.1:c.2373del XP_011520834.1:p.Phe791LeufsTer?
XM_011522533.1:c.2292del XP_011520835.1:p.Phe764LeufsTer?
XM_011522534.1:c.2235del XP_011520836.1:p.Phe745LeufsTer?
XM_011522535.1:c.321del XP_011520837.1:p.Phe107LeufsTer?
XM_011522536.1:c.2499del XP_011520838.1:p.Phe833LeufsTer?
XR_932867.1:n.2514del
XR_932868.1:n.2514del
XR_932869.1:n.2514del
XR_932870.1:n.2514del
XM_005255370.3:c.-605del XP_005255427.1:n.-605del
XM_011522528.3:c.2499del XP_011520830.1:p.Phe833LeufsTer?
XM_011522529.2:c.2499del XP_011520831.1:p.Phe833LeufsTer?
XM_024450298.1:c.2445del XP_024306066.1:p.Phe815LeufsTer?
XM_024450299.1:c.2373del XP_024306067.1:p.Phe791LeufsTer?
XM_024450300.1:c.2235del XP_024306068.1:p.Phe745LeufsTer?
XM_024450301.1:c.321del XP_024306069.1:p.Phe107LeufsTer?
NM_000296.4:c.2445del NP_000287.4:p.Phe815LeufsTer?
NM_001009944.3:c.2445del MANE Select NP_001009944.3:p.Phe815LeufsTer?