Canonical Allele Identifier: CA2695221605
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092566del , CM000678.2:g.2092566del GRCh38
NC_000016.9:g.2142567del , CM000678.1:g.2142567del GRCh37
NC_000016.8:g.2082568del NCBI36
NG_008617.1:g.50657del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11185del (PKD1) MANE Select ENSP00000262304.4:p.His3729ThrfsTer?
ENST00000262304.8:c.11185del (PKD1) ENSP00000262304.4:p.His3729ThrfsTer?
ENST00000423118.5:c.11182del (PKD1) ENSP00000399501.1:p.His3728ThrfsTer?
ENST00000485120.1:n.34del (PKD1)
ENST00000487932.5:c.5747del (PKD1) ENSP00000457132.1:n.5747del
ENST00000562425.1:c.298del (PKD1)
ENST00000567355.1:n.348del (PKD1)
NM_000296.3:c.11182del (PKD1) NP_000287.3:p.His3728ThrfsTer?
NM_001009944.2:c.11185del (PKD1) NP_001009944.2:p.His3729ThrfsTer?
XM_005255370.2:c.8140del (PKD1) XP_005255427.1:p.His2714ThrfsTer?
XM_011522525.1:c.11263del (PKD1) XP_011520827.1:p.His3755ThrfsTer?
XM_011522526.1:c.11260del (PKD1) XP_011520828.1:p.His3754ThrfsTer?
XM_011522527.1:c.11245del (PKD1) XP_011520829.1:p.His3749ThrfsTer?
XM_011522528.1:c.11239del (PKD1) XP_011520830.1:p.His3747ThrfsTer?
XM_011522529.1:c.11236del (PKD1) XP_011520831.1:p.His3746ThrfsTer?
XM_011522530.1:c.11209del (PKD1) XP_011520832.1:p.His3737ThrfsTer?
XM_011522531.1:c.11191del (PKD1) XP_011520833.1:p.His3731ThrfsTer?
XM_011522532.1:c.11137del (PKD1) XP_011520834.1:p.His3713ThrfsTer?
XM_011522533.1:c.11056del (PKD1) XP_011520835.1:p.His3686ThrfsTer?
XM_011522534.1:c.10999del (PKD1) XP_011520836.1:p.His3667ThrfsTer?
XM_011522535.1:c.9085del (PKD1) XP_011520837.1:p.His3029ThrfsTer?
XM_011522537.1:c.8263del (PKD1) XP_011520839.1:p.His2755ThrfsTer?
XR_932867.1:n.11278del (PKD1)
XR_932868.1:n.11110-376del (PKD1)
XR_932869.1:n.11110-376del (PKD1)
XR_932870.1:n.11138del (PKD1)
XR_933000.1:n.90-323del (PKD1-AS1)
XR_933001.1:n.180-323del (PKD1-AS1)
XR_933002.1:n.89-323del (PKD1-AS1)
XR_933003.1:n.89-323del (PKD1-AS1)
NR_135175.1:n.180-323del (PKD1-AS1)
XM_005255370.3:c.8140del (PKD1) XP_005255427.1:p.His2714ThrfsTer?
XM_011522528.3:c.11239del (PKD1) XP_011520830.1:p.His3747ThrfsTer?
XM_011522529.2:c.11236del (PKD1) XP_011520831.1:p.His3746ThrfsTer?
XM_011522537.2:c.8263del (PKD1) XP_011520839.1:p.His2755ThrfsTer?
XM_024450298.1:c.11305del (PKD1) XP_024306066.1:p.His3769ThrfsTer?
XM_024450299.1:c.11233del (PKD1) XP_024306067.1:p.His3745ThrfsTer?
XM_024450300.1:c.11095del (PKD1) XP_024306068.1:p.His3699ThrfsTer?
XM_024450301.1:c.9181del (PKD1) XP_024306069.1:p.His3061ThrfsTer?
NM_000296.4:c.11182del (PKD1) NP_000287.4:p.His3728ThrfsTer?
NM_001009944.3:c.11185del (PKD1) MANE Select NP_001009944.3:p.His3729ThrfsTer?