Canonical Allele Identifier: CA2202021563
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2091650157

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092648_2092651del , CM000678.2:g.2092648_2092651del GRCh38
NC_000016.9:g.2142649_2142652del , CM000678.1:g.2142649_2142652del GRCh37
NC_000016.8:g.2082650_2082653del NCBI36
NG_008617.1:g.50573_50576del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11157-56_11157-53del (PKD1) MANE Select ENSP00000262304.4:n.11157-56_11157-53del
ENST00000262304.8:c.11157-56_11157-53del (PKD1) ENSP00000262304.4:n.11157-56_11157-53del
ENST00000423118.5:c.11154-56_11154-53del (PKD1) ENSP00000399501.1:n.11154-56_11154-53del
ENST00000487932.5:c.5719-56_5719-53del (PKD1) ENSP00000457132.1:n.5719-56_5719-53del
ENST00000562425.1:c.270-56_270-53del (PKD1)
ENST00000567355.1:n.264_267del (PKD1)
NM_000296.3:c.11154-56_11154-53del (PKD1) NP_000287.3:n.11154-56_11154-53del
NM_001009944.2:c.11157-56_11157-53del (PKD1) NP_001009944.2:n.11157-56_11157-53del
XM_005255370.2:c.8112-56_8112-53del (PKD1) XP_005255427.1:n.8112-56_8112-53del
XM_011522525.1:c.11235-56_11235-53del (PKD1) XP_011520827.1:n.11235-56_11235-53del
XM_011522526.1:c.11232-56_11232-53del (PKD1) XP_011520828.1:n.11232-56_11232-53del
XM_011522527.1:c.11217-56_11217-53del (PKD1) XP_011520829.1:n.11217-56_11217-53del
XM_011522528.1:c.11211-56_11211-53del (PKD1) XP_011520830.1:n.11211-56_11211-53del
XM_011522529.1:c.11208-56_11208-53del (PKD1) XP_011520831.1:n.11208-56_11208-53del
XM_011522530.1:c.11181-56_11181-53del (PKD1) XP_011520832.1:n.11181-56_11181-53del
XM_011522531.1:c.11163-56_11163-53del (PKD1) XP_011520833.1:n.11163-56_11163-53del
XM_011522532.1:c.11109-56_11109-53del (PKD1) XP_011520834.1:n.11109-56_11109-53del
XM_011522533.1:c.11028-56_11028-53del (PKD1) XP_011520835.1:n.11028-56_11028-53del
XM_011522534.1:c.10971-56_10971-53del (PKD1) XP_011520836.1:n.10971-56_10971-53del
XM_011522535.1:c.9057-56_9057-53del (PKD1) XP_011520837.1:n.9057-56_9057-53del
XM_011522537.1:c.8235-56_8235-53del (PKD1) XP_011520839.1:n.8235-56_8235-53del
XR_932867.1:n.11250-56_11250-53del (PKD1)
XR_932868.1:n.11110-460_11110-457del (PKD1)
XR_932869.1:n.11110-460_11110-457del (PKD1)
XR_932870.1:n.11110-56_11110-53del (PKD1)
XR_933000.1:n.90-241_90-238del (PKD1-AS1)
XR_933001.1:n.180-241_180-238del (PKD1-AS1)
XR_933002.1:n.89-241_89-238del (PKD1-AS1)
XR_933003.1:n.89-241_89-238del (PKD1-AS1)
NR_135175.1:n.180-241_180-238del (PKD1-AS1)
XM_005255370.3:c.8112-56_8112-53del (PKD1) XP_005255427.1:n.8112-56_8112-53del
XM_011522528.3:c.11211-56_11211-53del (PKD1) XP_011520830.1:n.11211-56_11211-53del
XM_011522529.2:c.11208-56_11208-53del (PKD1) XP_011520831.1:n.11208-56_11208-53del
XM_011522537.2:c.8235-56_8235-53del (PKD1) XP_011520839.1:n.8235-56_8235-53del
XM_024450298.1:c.11277-56_11277-53del (PKD1) XP_024306066.1:n.11277-56_11277-53del
XM_024450299.1:c.11205-56_11205-53del (PKD1) XP_024306067.1:n.11205-56_11205-53del
XM_024450300.1:c.11067-56_11067-53del (PKD1) XP_024306068.1:n.11067-56_11067-53del
XM_024450301.1:c.9153-56_9153-53del (PKD1) XP_024306069.1:n.9153-56_9153-53del
NM_000296.4:c.11154-56_11154-53del (PKD1) NP_000287.4:n.11154-56_11154-53del
NM_001009944.3:c.11157-56_11157-53del (PKD1) MANE Select NP_001009944.3:n.11157-56_11157-53del