Canonical Allele Identifier: CA2832567263
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092513dup , CM000678.2:g.2092513dup GRCh38
NC_000016.9:g.2142514dup , CM000678.1:g.2142514dup GRCh37
NC_000016.8:g.2082515dup NCBI36
NG_008617.1:g.50712dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11240dup (PKD1) MANE Select ENSP00000262304.4:p.Arg3748ThrfsTer?
ENST00000262304.8:c.11240dup (PKD1) ENSP00000262304.4:p.Arg3748ThrfsTer?
ENST00000423118.5:c.11237dup (PKD1) ENSP00000399501.1:p.Arg3747ThrfsTer?
ENST00000485120.1:n.89dup (PKD1)
ENST00000487932.5:c.5802dup (PKD1) ENSP00000457132.1:n.5802dup
ENST00000562425.1:c.353dup (PKD1)
ENST00000567355.1:n.403dup (PKD1)
NM_000296.3:c.11237dup (PKD1) NP_000287.3:p.Arg3747ThrfsTer?
NM_001009944.2:c.11240dup (PKD1) NP_001009944.2:p.Arg3748ThrfsTer?
XM_005255370.2:c.8195dup (PKD1) XP_005255427.1:p.Arg2733ThrfsTer?
XM_011522525.1:c.11318dup (PKD1) XP_011520827.1:p.Arg3774ThrfsTer?
XM_011522526.1:c.11315dup (PKD1) XP_011520828.1:p.Arg3773ThrfsTer?
XM_011522527.1:c.11300dup (PKD1) XP_011520829.1:p.Arg3768ThrfsTer?
XM_011522528.1:c.11294dup (PKD1) XP_011520830.1:p.Arg3766ThrfsTer?
XM_011522529.1:c.11291dup (PKD1) XP_011520831.1:p.Arg3765ThrfsTer?
XM_011522530.1:c.11264dup (PKD1) XP_011520832.1:p.Arg3756ThrfsTer?
XM_011522531.1:c.11246dup (PKD1) XP_011520833.1:p.Arg3750ThrfsTer?
XM_011522532.1:c.11192dup (PKD1) XP_011520834.1:p.Arg3732ThrfsTer?
XM_011522533.1:c.11111dup (PKD1) XP_011520835.1:p.Arg3705ThrfsTer?
XM_011522534.1:c.11054dup (PKD1) XP_011520836.1:p.Arg3686ThrfsTer?
XM_011522535.1:c.9140dup (PKD1) XP_011520837.1:p.Arg3048ThrfsTer?
XM_011522537.1:c.8318dup (PKD1) XP_011520839.1:p.Arg2774ThrfsTer?
XR_932867.1:n.11333dup (PKD1)
XR_932868.1:n.11110-321dup (PKD1)
XR_932869.1:n.11110-321dup (PKD1)
XR_932870.1:n.11193dup (PKD1)
XR_933000.1:n.90-376dup (PKD1-AS1)
XR_933001.1:n.180-376dup (PKD1-AS1)
XR_933002.1:n.89-376dup (PKD1-AS1)
XR_933003.1:n.89-376dup (PKD1-AS1)
NR_135175.1:n.180-376dup (PKD1-AS1)
XM_005255370.3:c.8195dup (PKD1) XP_005255427.1:p.Arg2733ThrfsTer?
XM_011522528.3:c.11294dup (PKD1) XP_011520830.1:p.Arg3766ThrfsTer?
XM_011522529.2:c.11291dup (PKD1) XP_011520831.1:p.Arg3765ThrfsTer?
XM_011522537.2:c.8318dup (PKD1) XP_011520839.1:p.Arg2774ThrfsTer?
XM_024450298.1:c.11360dup (PKD1) XP_024306066.1:p.Arg3788ThrfsTer?
XM_024450299.1:c.11288dup (PKD1) XP_024306067.1:p.Arg3764ThrfsTer?
XM_024450300.1:c.11150dup (PKD1) XP_024306068.1:p.Arg3718ThrfsTer?
XM_024450301.1:c.9236dup (PKD1) XP_024306069.1:p.Arg3080ThrfsTer?
NM_000296.4:c.11237dup (PKD1) NP_000287.4:p.Arg3747ThrfsTer?
NM_001009944.3:c.11240dup (PKD1) MANE Select NP_001009944.3:p.Arg3748ThrfsTer?