Canonical Allele Identifier: CA2695221595
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092503_2092505del , CM000678.2:g.2092503_2092505del GRCh38
NC_000016.9:g.2142504_2142506del , CM000678.1:g.2142504_2142506del GRCh37
NC_000016.8:g.2082505_2082507del NCBI36
NG_008617.1:g.50718_50720del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11246_11248del (PKD1) MANE Select ENSP00000262304.4:p.Leu3749del
ENST00000262304.8:c.11246_11248del (PKD1) ENSP00000262304.4:p.Leu3749del
ENST00000423118.5:c.11243_11245del (PKD1) ENSP00000399501.1:p.Leu3748del
ENST00000485120.1:n.95_97del (PKD1)
ENST00000487932.5:c.5808_5810del (PKD1) ENSP00000457132.1:n.5808_5810del
ENST00000562425.1:c.359_361del (PKD1)
ENST00000567355.1:n.409_411del (PKD1)
NM_000296.3:c.11243_11245del (PKD1) NP_000287.3:p.Leu3748del
NM_001009944.2:c.11246_11248del (PKD1) NP_001009944.2:p.Leu3749del
XM_005255370.2:c.8201_8203del (PKD1) XP_005255427.1:p.Leu2734del
XM_011522525.1:c.11324_11326del (PKD1) XP_011520827.1:p.Leu3775del
XM_011522526.1:c.11321_11323del (PKD1) XP_011520828.1:p.Leu3774del
XM_011522527.1:c.11306_11308del (PKD1) XP_011520829.1:p.Leu3769del
XM_011522528.1:c.11300_11302del (PKD1) XP_011520830.1:p.Leu3767del
XM_011522529.1:c.11297_11299del (PKD1) XP_011520831.1:p.Leu3766del
XM_011522530.1:c.11270_11272del (PKD1) XP_011520832.1:p.Leu3757del
XM_011522531.1:c.11252_11254del (PKD1) XP_011520833.1:p.Leu3751del
XM_011522532.1:c.11198_11200del (PKD1) XP_011520834.1:p.Leu3733del
XM_011522533.1:c.11117_11119del (PKD1) XP_011520835.1:p.Leu3706del
XM_011522534.1:c.11060_11062del (PKD1) XP_011520836.1:p.Leu3687del
XM_011522535.1:c.9146_9148del (PKD1) XP_011520837.1:p.Leu3049del
XM_011522537.1:c.8324_8326del (PKD1) XP_011520839.1:p.Leu2775del
XR_932867.1:n.11339_11341del (PKD1)
XR_932868.1:n.11110-315_11110-313del (PKD1)
XR_932869.1:n.11110-315_11110-313del (PKD1)
XR_932870.1:n.11199_11201del (PKD1)
XR_933000.1:n.90-386_90-384del (PKD1-AS1)
XR_933001.1:n.180-386_180-384del (PKD1-AS1)
XR_933002.1:n.89-386_89-384del (PKD1-AS1)
XR_933003.1:n.89-386_89-384del (PKD1-AS1)
NR_135175.1:n.180-386_180-384del (PKD1-AS1)
XM_005255370.3:c.8201_8203del (PKD1) XP_005255427.1:p.Leu2734del
XM_011522528.3:c.11300_11302del (PKD1) XP_011520830.1:p.Leu3767del
XM_011522529.2:c.11297_11299del (PKD1) XP_011520831.1:p.Leu3766del
XM_011522537.2:c.8324_8326del (PKD1) XP_011520839.1:p.Leu2775del
XM_024450298.1:c.11366_11368del (PKD1) XP_024306066.1:p.Leu3789del
XM_024450299.1:c.11294_11296del (PKD1) XP_024306067.1:p.Leu3765del
XM_024450300.1:c.11156_11158del (PKD1) XP_024306068.1:p.Leu3719del
XM_024450301.1:c.9242_9244del (PKD1) XP_024306069.1:p.Leu3081del
NM_000296.4:c.11243_11245del (PKD1) NP_000287.4:p.Leu3748del
NM_001009944.3:c.11246_11248del (PKD1) MANE Select NP_001009944.3:p.Leu3749del