Canonical Allele Identifier: CA2631132163
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092494_2092508del , CM000678.2:g.2092494_2092508del GRCh38
NC_000016.9:g.2142495_2142509del , CM000678.1:g.2142495_2142509del GRCh37
NC_000016.8:g.2082496_2082510del NCBI36
NG_008617.1:g.50713_50727del

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.11241_11255del (PKD1) MANE Select ENSP00000262304.4:p.Arg3748_Val3752del
ENST00000262304.8:c.11241_11255del (PKD1) ENSP00000262304.4:p.Arg3748_Val3752del
ENST00000423118.5:c.11238_11252del (PKD1) ENSP00000399501.1:p.Arg3747_Val3751del
ENST00000485120.1:n.90_104del (PKD1)
ENST00000487932.5:c.5803_5817del (PKD1) ENSP00000457132.1:n.5803_5817del
ENST00000562425.1:c.354_368del (PKD1)
ENST00000567355.1:n.404_418del (PKD1)
NM_000296.3:c.11238_11252del (PKD1) NP_000287.3:p.Arg3747_Val3751del
NM_001009944.2:c.11241_11255del (PKD1) NP_001009944.2:p.Arg3748_Val3752del
XM_005255370.2:c.8196_8210del (PKD1) XP_005255427.1:p.Arg2733_Val2737del
XM_011522525.1:c.11319_11333del (PKD1) XP_011520827.1:p.Arg3774_Val3778del
XM_011522526.1:c.11316_11330del (PKD1) XP_011520828.1:p.Arg3773_Val3777del
XM_011522527.1:c.11301_11315del (PKD1) XP_011520829.1:p.Arg3768_Val3772del
XM_011522528.1:c.11295_11309del (PKD1) XP_011520830.1:p.Arg3766_Val3770del
XM_011522529.1:c.11292_11306del (PKD1) XP_011520831.1:p.Arg3765_Val3769del
XM_011522530.1:c.11265_11279del (PKD1) XP_011520832.1:p.Arg3756_Val3760del
XM_011522531.1:c.11247_11261del (PKD1) XP_011520833.1:p.Arg3750_Val3754del
XM_011522532.1:c.11193_11207del (PKD1) XP_011520834.1:p.Arg3732_Val3736del
XM_011522533.1:c.11112_11126del (PKD1) XP_011520835.1:p.Arg3705_Val3709del
XM_011522534.1:c.11055_11069del (PKD1) XP_011520836.1:p.Arg3686_Val3690del
XM_011522535.1:c.9141_9155del (PKD1) XP_011520837.1:p.Arg3048_Val3052del
XM_011522537.1:c.8319_8333del (PKD1) XP_011520839.1:p.Arg2774_Val2778del
XR_932867.1:n.11334_11348del (PKD1)
XR_932868.1:n.11110-320_11110-306del (PKD1)
XR_932869.1:n.11110-320_11110-306del (PKD1)
XR_932870.1:n.11194_11208del (PKD1)
XR_933000.1:n.90-395_90-381del (PKD1-AS1)
XR_933001.1:n.180-395_180-381del (PKD1-AS1)
XR_933002.1:n.89-395_89-381del (PKD1-AS1)
XR_933003.1:n.89-395_89-381del (PKD1-AS1)
NR_135175.1:n.180-395_180-381del (PKD1-AS1)
XM_005255370.3:c.8196_8210del (PKD1) XP_005255427.1:p.Arg2733_Val2737del
XM_011522528.3:c.11295_11309del (PKD1) XP_011520830.1:p.Arg3766_Val3770del
XM_011522529.2:c.11292_11306del (PKD1) XP_011520831.1:p.Arg3765_Val3769del
XM_011522537.2:c.8319_8333del (PKD1) XP_011520839.1:p.Arg2774_Val2778del
XM_024450298.1:c.11361_11375del (PKD1) XP_024306066.1:p.Arg3788_Val3792del
XM_024450299.1:c.11289_11303del (PKD1) XP_024306067.1:p.Arg3764_Val3768del
XM_024450300.1:c.11151_11165del (PKD1) XP_024306068.1:p.Arg3718_Val3722del
XM_024450301.1:c.9237_9251del (PKD1) XP_024306069.1:p.Arg3080_Val3084del
NM_000296.4:c.11238_11252del (PKD1) NP_000287.4:p.Arg3747_Val3751del
NM_001009944.3:c.11241_11255del (PKD1) MANE Select NP_001009944.3:p.Arg3748_Val3752del