Canonical Allele Identifier: CA210902
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2091582del , CM000678.2:g.2091582del GRCh38
NC_000016.9:g.2141583del , CM000678.1:g.2141583del GRCh37
NC_000016.8:g.2081584del NCBI36
NG_008617.1:g.51640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11554del (PKD1) MANE Select ENSP00000262304.4:p.Leu3852TrpfsTer?
ENST00000262304.8:c.11554del (PKD1) ENSP00000262304.4:p.Leu3852TrpfsTer?
ENST00000423118.5:c.11551del (PKD1) ENSP00000399501.1:p.Leu3851TrpfsTer?
ENST00000485120.1:n.543del (PKD1)
ENST00000487932.5:c.6116del (PKD1) ENSP00000457132.1:n.6116del
ENST00000561668.5:c.215del (PKD1)
ENST00000564313.1:n.233+200del (PKD1)
NM_000296.3:c.11551del (PKD1) NP_000287.3:p.Leu3851TrpfsTer?
NM_001009944.2:c.11554del (PKD1) NP_001009944.2:p.Leu3852TrpfsTer?
XM_005255370.2:c.8509del (PKD1) XP_005255427.1:p.Leu2837TrpfsTer?
XM_011522525.1:c.11632del (PKD1) XP_011520827.1:p.Leu3878TrpfsTer?
XM_011522526.1:c.11629del (PKD1) XP_011520828.1:p.Leu3877TrpfsTer?
XM_011522527.1:c.11614del (PKD1) XP_011520829.1:p.Leu3872TrpfsTer?
XM_011522528.1:c.11608del (PKD1) XP_011520830.1:p.Leu3870TrpfsTer?
XM_011522529.1:c.11605del (PKD1) XP_011520831.1:p.Leu3869TrpfsTer?
XM_011522530.1:c.11578del (PKD1) XP_011520832.1:p.Leu3860TrpfsTer?
XM_011522531.1:c.11560del (PKD1) XP_011520833.1:p.Leu3854TrpfsTer?
XM_011522532.1:c.11506del (PKD1) XP_011520834.1:p.Leu3836TrpfsTer?
XM_011522533.1:c.11425del (PKD1) XP_011520835.1:p.Leu3809TrpfsTer?
XM_011522534.1:c.11368del (PKD1) XP_011520836.1:p.Leu3790TrpfsTer?
XM_011522535.1:c.9454del (PKD1) XP_011520837.1:p.Leu3152TrpfsTer?
XM_011522537.1:c.8632del (PKD1) XP_011520839.1:p.Leu2878TrpfsTer?
XR_932867.1:n.11630+200del (PKD1)
XR_932868.1:n.11394del (PKD1)
XR_932869.1:n.11377+200del (PKD1)
XR_933000.1:n.57del (PKD1-AS1)
XR_933001.1:n.147del (PKD1-AS1)
XR_933002.1:n.62del (PKD1-AS1)
XR_933003.1:n.62del (PKD1-AS1)
NR_135175.1:n.147del (PKD1-AS1)
XM_005255370.3:c.8509del (PKD1) XP_005255427.1:p.Leu2837TrpfsTer?
XM_011522528.3:c.11608del (PKD1) XP_011520830.1:p.Leu3870TrpfsTer?
XM_011522529.2:c.11605del (PKD1) XP_011520831.1:p.Leu3869TrpfsTer?
XM_011522537.2:c.8632del (PKD1) XP_011520839.1:p.Leu2878TrpfsTer?
XM_024450298.1:c.11674del (PKD1) XP_024306066.1:p.Leu3892TrpfsTer?
XM_024450299.1:c.11602del (PKD1) XP_024306067.1:p.Leu3868TrpfsTer?
XM_024450300.1:c.11464del (PKD1) XP_024306068.1:p.Leu3822TrpfsTer?
XM_024450301.1:c.9550del (PKD1) XP_024306069.1:p.Leu3184TrpfsTer?
NM_000296.4:c.11551del (PKD1) NP_000287.4:p.Leu3851TrpfsTer?
NM_001009944.3:c.11554del (PKD1) MANE Select NP_001009944.3:p.Leu3852TrpfsTer?