Canonical Allele Identifier: CA2695221606
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092572dup , CM000678.2:g.2092572dup GRCh38
NC_000016.9:g.2142573dup , CM000678.1:g.2142573dup GRCh37
NC_000016.8:g.2082574dup NCBI36
NG_008617.1:g.50650dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11178dup (PKD1) MANE Select ENSP00000262304.4:p.Met3727AspfsTer?
ENST00000262304.8:c.11178dup (PKD1) ENSP00000262304.4:p.Met3727AspfsTer?
ENST00000423118.5:c.11175dup (PKD1) ENSP00000399501.1:p.Met3726AspfsTer?
ENST00000485120.1:n.27dup (PKD1)
ENST00000487932.5:c.5740dup (PKD1) ENSP00000457132.1:n.5740dup
ENST00000562425.1:c.291dup (PKD1)
ENST00000567355.1:n.341dup (PKD1)
NM_000296.3:c.11175dup (PKD1) NP_000287.3:p.Met3726AspfsTer?
NM_001009944.2:c.11178dup (PKD1) NP_001009944.2:p.Met3727AspfsTer?
XM_005255370.2:c.8133dup (PKD1) XP_005255427.1:p.Met2712AspfsTer?
XM_011522525.1:c.11256dup (PKD1) XP_011520827.1:p.Met3753AspfsTer?
XM_011522526.1:c.11253dup (PKD1) XP_011520828.1:p.Met3752AspfsTer?
XM_011522527.1:c.11238dup (PKD1) XP_011520829.1:p.Met3747AspfsTer?
XM_011522528.1:c.11232dup (PKD1) XP_011520830.1:p.Met3745AspfsTer?
XM_011522529.1:c.11229dup (PKD1) XP_011520831.1:p.Met3744AspfsTer?
XM_011522530.1:c.11202dup (PKD1) XP_011520832.1:p.Met3735AspfsTer?
XM_011522531.1:c.11184dup (PKD1) XP_011520833.1:p.Met3729AspfsTer?
XM_011522532.1:c.11130dup (PKD1) XP_011520834.1:p.Met3711AspfsTer?
XM_011522533.1:c.11049dup (PKD1) XP_011520835.1:p.Met3684AspfsTer?
XM_011522534.1:c.10992dup (PKD1) XP_011520836.1:p.Met3665AspfsTer?
XM_011522535.1:c.9078dup (PKD1) XP_011520837.1:p.Met3027AspfsTer?
XM_011522537.1:c.8256dup (PKD1) XP_011520839.1:p.Met2753AspfsTer?
XR_932867.1:n.11271dup (PKD1)
XR_932868.1:n.11110-383dup (PKD1)
XR_932869.1:n.11110-383dup (PKD1)
XR_932870.1:n.11131dup (PKD1)
XR_933000.1:n.90-317dup (PKD1-AS1)
XR_933001.1:n.180-317dup (PKD1-AS1)
XR_933002.1:n.89-317dup (PKD1-AS1)
XR_933003.1:n.89-317dup (PKD1-AS1)
NR_135175.1:n.180-317dup (PKD1-AS1)
XM_005255370.3:c.8133dup (PKD1) XP_005255427.1:p.Met2712AspfsTer?
XM_011522528.3:c.11232dup (PKD1) XP_011520830.1:p.Met3745AspfsTer?
XM_011522529.2:c.11229dup (PKD1) XP_011520831.1:p.Met3744AspfsTer?
XM_011522537.2:c.8256dup (PKD1) XP_011520839.1:p.Met2753AspfsTer?
XM_024450298.1:c.11298dup (PKD1) XP_024306066.1:p.Met3767AspfsTer?
XM_024450299.1:c.11226dup (PKD1) XP_024306067.1:p.Met3743AspfsTer?
XM_024450300.1:c.11088dup (PKD1) XP_024306068.1:p.Met3697AspfsTer?
XM_024450301.1:c.9174dup (PKD1) XP_024306069.1:p.Met3059AspfsTer?
NM_000296.4:c.11175dup (PKD1) NP_000287.4:p.Met3726AspfsTer?
NM_001009944.3:c.11178dup (PKD1) MANE Select NP_001009944.3:p.Met3727AspfsTer?