Canonical Allele Identifier: CA276767352
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1026387267

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092607_2092610del , CM000678.2:g.2092607_2092610del GRCh38
NC_000016.9:g.2142608_2142611del , CM000678.1:g.2142608_2142611del GRCh37
NC_000016.8:g.2082609_2082612del NCBI36
NG_008617.1:g.50614_50617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11157-15_11157-12del (PKD1) MANE Select ENSP00000262304.4:n.11157-15_11157-12del
ENST00000262304.8:c.11157-15_11157-12del (PKD1) ENSP00000262304.4:n.11157-15_11157-12del
ENST00000423118.5:c.11154-15_11154-12del (PKD1) ENSP00000399501.1:n.11154-15_11154-12del
ENST00000487932.5:c.5719-15_5719-12del (PKD1) ENSP00000457132.1:n.5719-15_5719-12del
ENST00000562425.1:c.270-15_270-12del (PKD1)
ENST00000567355.1:n.305_308del (PKD1)
NM_000296.3:c.11154-15_11154-12del (PKD1) NP_000287.3:n.11154-15_11154-12del
NM_001009944.2:c.11157-15_11157-12del (PKD1) NP_001009944.2:n.11157-15_11157-12del
XM_005255370.2:c.8112-15_8112-12del (PKD1) XP_005255427.1:n.8112-15_8112-12del
XM_011522525.1:c.11235-15_11235-12del (PKD1) XP_011520827.1:n.11235-15_11235-12del
XM_011522526.1:c.11232-15_11232-12del (PKD1) XP_011520828.1:n.11232-15_11232-12del
XM_011522527.1:c.11217-15_11217-12del (PKD1) XP_011520829.1:n.11217-15_11217-12del
XM_011522528.1:c.11211-15_11211-12del (PKD1) XP_011520830.1:n.11211-15_11211-12del
XM_011522529.1:c.11208-15_11208-12del (PKD1) XP_011520831.1:n.11208-15_11208-12del
XM_011522530.1:c.11181-15_11181-12del (PKD1) XP_011520832.1:n.11181-15_11181-12del
XM_011522531.1:c.11163-15_11163-12del (PKD1) XP_011520833.1:n.11163-15_11163-12del
XM_011522532.1:c.11109-15_11109-12del (PKD1) XP_011520834.1:n.11109-15_11109-12del
XM_011522533.1:c.11028-15_11028-12del (PKD1) XP_011520835.1:n.11028-15_11028-12del
XM_011522534.1:c.10971-15_10971-12del (PKD1) XP_011520836.1:n.10971-15_10971-12del
XM_011522535.1:c.9057-15_9057-12del (PKD1) XP_011520837.1:n.9057-15_9057-12del
XM_011522537.1:c.8235-15_8235-12del (PKD1) XP_011520839.1:n.8235-15_8235-12del
XR_932867.1:n.11250-15_11250-12del (PKD1)
XR_932868.1:n.11110-419_11110-416del (PKD1)
XR_932869.1:n.11110-419_11110-416del (PKD1)
XR_932870.1:n.11110-15_11110-12del (PKD1)
XR_933000.1:n.90-282_90-279del (PKD1-AS1)
XR_933001.1:n.180-282_180-279del (PKD1-AS1)
XR_933002.1:n.89-282_89-279del (PKD1-AS1)
XR_933003.1:n.89-282_89-279del (PKD1-AS1)
NR_135175.1:n.180-282_180-279del (PKD1-AS1)
XM_005255370.3:c.8112-15_8112-12del (PKD1) XP_005255427.1:n.8112-15_8112-12del
XM_011522528.3:c.11211-15_11211-12del (PKD1) XP_011520830.1:n.11211-15_11211-12del
XM_011522529.2:c.11208-15_11208-12del (PKD1) XP_011520831.1:n.11208-15_11208-12del
XM_011522537.2:c.8235-15_8235-12del (PKD1) XP_011520839.1:n.8235-15_8235-12del
XM_024450298.1:c.11277-15_11277-12del (PKD1) XP_024306066.1:n.11277-15_11277-12del
XM_024450299.1:c.11205-15_11205-12del (PKD1) XP_024306067.1:n.11205-15_11205-12del
XM_024450300.1:c.11067-15_11067-12del (PKD1) XP_024306068.1:n.11067-15_11067-12del
XM_024450301.1:c.9153-15_9153-12del (PKD1) XP_024306069.1:n.9153-15_9153-12del
NM_000296.4:c.11154-15_11154-12del (PKD1) NP_000287.4:n.11154-15_11154-12del
NM_001009944.3:c.11157-15_11157-12del (PKD1) MANE Select NP_001009944.3:n.11157-15_11157-12del