Canonical Allele Identifier: CA2631132559
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092626_2092628del , CM000678.2:g.2092626_2092628del GRCh38
NC_000016.9:g.2142627_2142629del , CM000678.1:g.2142627_2142629del GRCh37
NC_000016.8:g.2082628_2082630del NCBI36
NG_008617.1:g.50595_50597del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11157-34_11157-32del (PKD1) MANE Select ENSP00000262304.4:n.11157-34_11157-32del
ENST00000262304.8:c.11157-34_11157-32del (PKD1) ENSP00000262304.4:n.11157-34_11157-32del
ENST00000423118.5:c.11154-34_11154-32del (PKD1) ENSP00000399501.1:n.11154-34_11154-32del
ENST00000487932.5:c.5719-34_5719-32del (PKD1) ENSP00000457132.1:n.5719-34_5719-32del
ENST00000562425.1:c.270-34_270-32del (PKD1)
ENST00000567355.1:n.286_288del (PKD1)
NM_000296.3:c.11154-34_11154-32del (PKD1) NP_000287.3:n.11154-34_11154-32del
NM_001009944.2:c.11157-34_11157-32del (PKD1) NP_001009944.2:n.11157-34_11157-32del
XM_005255370.2:c.8112-34_8112-32del (PKD1) XP_005255427.1:n.8112-34_8112-32del
XM_011522525.1:c.11235-34_11235-32del (PKD1) XP_011520827.1:n.11235-34_11235-32del
XM_011522526.1:c.11232-34_11232-32del (PKD1) XP_011520828.1:n.11232-34_11232-32del
XM_011522527.1:c.11217-34_11217-32del (PKD1) XP_011520829.1:n.11217-34_11217-32del
XM_011522528.1:c.11211-34_11211-32del (PKD1) XP_011520830.1:n.11211-34_11211-32del
XM_011522529.1:c.11208-34_11208-32del (PKD1) XP_011520831.1:n.11208-34_11208-32del
XM_011522530.1:c.11181-34_11181-32del (PKD1) XP_011520832.1:n.11181-34_11181-32del
XM_011522531.1:c.11163-34_11163-32del (PKD1) XP_011520833.1:n.11163-34_11163-32del
XM_011522532.1:c.11109-34_11109-32del (PKD1) XP_011520834.1:n.11109-34_11109-32del
XM_011522533.1:c.11028-34_11028-32del (PKD1) XP_011520835.1:n.11028-34_11028-32del
XM_011522534.1:c.10971-34_10971-32del (PKD1) XP_011520836.1:n.10971-34_10971-32del
XM_011522535.1:c.9057-34_9057-32del (PKD1) XP_011520837.1:n.9057-34_9057-32del
XM_011522537.1:c.8235-34_8235-32del (PKD1) XP_011520839.1:n.8235-34_8235-32del
XR_932867.1:n.11250-34_11250-32del (PKD1)
XR_932868.1:n.11110-438_11110-436del (PKD1)
XR_932869.1:n.11110-438_11110-436del (PKD1)
XR_932870.1:n.11110-34_11110-32del (PKD1)
XR_933000.1:n.90-263_90-261del (PKD1-AS1)
XR_933001.1:n.180-263_180-261del (PKD1-AS1)
XR_933002.1:n.89-263_89-261del (PKD1-AS1)
XR_933003.1:n.89-263_89-261del (PKD1-AS1)
NR_135175.1:n.180-263_180-261del (PKD1-AS1)
XM_005255370.3:c.8112-34_8112-32del (PKD1) XP_005255427.1:n.8112-34_8112-32del
XM_011522528.3:c.11211-34_11211-32del (PKD1) XP_011520830.1:n.11211-34_11211-32del
XM_011522529.2:c.11208-34_11208-32del (PKD1) XP_011520831.1:n.11208-34_11208-32del
XM_011522537.2:c.8235-34_8235-32del (PKD1) XP_011520839.1:n.8235-34_8235-32del
XM_024450298.1:c.11277-34_11277-32del (PKD1) XP_024306066.1:n.11277-34_11277-32del
XM_024450299.1:c.11205-34_11205-32del (PKD1) XP_024306067.1:n.11205-34_11205-32del
XM_024450300.1:c.11067-34_11067-32del (PKD1) XP_024306068.1:n.11067-34_11067-32del
XM_024450301.1:c.9153-34_9153-32del (PKD1) XP_024306069.1:n.9153-34_9153-32del
NM_000296.4:c.11154-34_11154-32del (PKD1) NP_000287.4:n.11154-34_11154-32del
NM_001009944.3:c.11157-34_11157-32del (PKD1) MANE Select NP_001009944.3:n.11157-34_11157-32del