Canonical Allele Identifier: CA2831039413
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092556_2092557delinsAG , CM000678.2:g.2092556_2092557delinsAG GRCh38
NC_000016.9:g.2142557_2142558delinsAG , CM000678.1:g.2142557_2142558delinsAG GRCh37
NC_000016.8:g.2082558_2082559delinsAG NCBI36
NG_008617.1:g.50664_50665delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11192_11193delinsCT (PKD1) MANE Select ENSP00000262304.4:p.Leu3731Pro
ENST00000262304.8:c.11192_11193delinsCT (PKD1) ENSP00000262304.4:p.Leu3731Pro
ENST00000423118.5:c.11189_11190delinsCT (PKD1) ENSP00000399501.1:p.Leu3730Pro
ENST00000485120.1:n.41_42delinsCT (PKD1)
ENST00000487932.5:c.5754_5755delinsCT (PKD1) ENSP00000457132.1:n.5754_5755delinsCT
ENST00000562425.1:c.305_306delinsCT (PKD1)
ENST00000567355.1:n.355_356delinsCT (PKD1)
NM_000296.3:c.11189_11190delinsCT (PKD1) NP_000287.3:p.Leu3730Pro
NM_001009944.2:c.11192_11193delinsCT (PKD1) NP_001009944.2:p.Leu3731Pro
XM_005255370.2:c.8147_8148delinsCT (PKD1) XP_005255427.1:p.Leu2716Pro
XM_011522525.1:c.11270_11271delinsCT (PKD1) XP_011520827.1:p.Leu3757Pro
XM_011522526.1:c.11267_11268delinsCT (PKD1) XP_011520828.1:p.Leu3756Pro
XM_011522527.1:c.11252_11253delinsCT (PKD1) XP_011520829.1:p.Leu3751Pro
XM_011522528.1:c.11246_11247delinsCT (PKD1) XP_011520830.1:p.Leu3749Pro
XM_011522529.1:c.11243_11244delinsCT (PKD1) XP_011520831.1:p.Leu3748Pro
XM_011522530.1:c.11216_11217delinsCT (PKD1) XP_011520832.1:p.Leu3739Pro
XM_011522531.1:c.11198_11199delinsCT (PKD1) XP_011520833.1:p.Leu3733Pro
XM_011522532.1:c.11144_11145delinsCT (PKD1) XP_011520834.1:p.Leu3715Pro
XM_011522533.1:c.11063_11064delinsCT (PKD1) XP_011520835.1:p.Leu3688Pro
XM_011522534.1:c.11006_11007delinsCT (PKD1) XP_011520836.1:p.Leu3669Pro
XM_011522535.1:c.9092_9093delinsCT (PKD1) XP_011520837.1:p.Leu3031Pro
XM_011522537.1:c.8270_8271delinsCT (PKD1) XP_011520839.1:p.Leu2757Pro
XR_932867.1:n.11285_11286delinsCT (PKD1)
XR_932868.1:n.11110-369_11110-368delinsCT (PKD1)
XR_932869.1:n.11110-369_11110-368delinsCT (PKD1)
XR_932870.1:n.11145_11146delinsCT (PKD1)
XR_933000.1:n.90-333_90-332delinsAG (PKD1-AS1)
XR_933001.1:n.180-333_180-332delinsAG (PKD1-AS1)
XR_933002.1:n.89-333_89-332delinsAG (PKD1-AS1)
XR_933003.1:n.89-333_89-332delinsAG (PKD1-AS1)
NR_135175.1:n.180-333_180-332delinsAG (PKD1-AS1)
XM_005255370.3:c.8147_8148delinsCT (PKD1) XP_005255427.1:p.Leu2716Pro
XM_011522528.3:c.11246_11247delinsCT (PKD1) XP_011520830.1:p.Leu3749Pro
XM_011522529.2:c.11243_11244delinsCT (PKD1) XP_011520831.1:p.Leu3748Pro
XM_011522537.2:c.8270_8271delinsCT (PKD1) XP_011520839.1:p.Leu2757Pro
XM_024450298.1:c.11312_11313delinsCT (PKD1) XP_024306066.1:p.Leu3771Pro
XM_024450299.1:c.11240_11241delinsCT (PKD1) XP_024306067.1:p.Leu3747Pro
XM_024450300.1:c.11102_11103delinsCT (PKD1) XP_024306068.1:p.Leu3701Pro
XM_024450301.1:c.9188_9189delinsCT (PKD1) XP_024306069.1:p.Leu3063Pro
NM_000296.4:c.11189_11190delinsCT (PKD1) NP_000287.4:p.Leu3730Pro
NM_001009944.3:c.11192_11193delinsCT (PKD1) MANE Select NP_001009944.3:p.Leu3731Pro