Canonical Allele Identifier: CA2202020963
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092482_2092498delinsTCCTGCAGCCGCACCTG , CM000678.2:g.2092482_2092498delinsTCCTGCAGCCGCACCTG GRCh38
NC_000016.9:g.2142483_2142499delinsTCCTGCAGCCGCACCTG , CM000678.1:g.2142483_2142499delinsTCCTGCAGCCGCACCTG GRCh37
NC_000016.8:g.2082484_2082500delinsTCCTGCAGCCGCACCTG NCBI36
NG_008617.1:g.50723_50739delinsCAGGTGCGGCTGCAGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.11251_11267delinsCAGGTGCGGCTGCAGGA (PKD1) MANE Select ENSP00000262304.4:p.Gln3751=
ENST00000262304.8:c.11251_11267delinsCAGGTGCGGCTGCAGGA (PKD1) ENSP00000262304.4:p.Gln3751=
ENST00000423118.5:c.11248_11264delinsCAGGTGCGGCTGCAGGA (PKD1) ENSP00000399501.1:p.Gln3750=
ENST00000485120.1:n.100_116delinsCAGGTGCGGCTGCAGGA (PKD1)
ENST00000487932.5:c.5813_5829delinsCAGGTGCGGCTGCAGGA (PKD1) ENSP00000457132.1:n.5813_5829delinsCAGGTG...
ENST00000562425.1:c.364_380delinsCAGGTGCGGCTGCAGGA (PKD1)
ENST00000567355.1:n.414_430delinsCAGGTGCGGCTGCAGGA (PKD1)
NM_000296.3:c.11248_11264delinsCAGGTGCGGCTGCAGGA (PKD1) NP_000287.3:p.Gln3750=
NM_001009944.2:c.11251_11267delinsCAGGTGCGGCTGCAGGA (PKD1) NP_001009944.2:p.Gln3751=
XM_005255370.2:c.8206_8222delinsCAGGTGCGGCTGCAGGA (PKD1) XP_005255427.1:p.Gln2736=
XM_011522525.1:c.11329_11345delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520827.1:p.Gln3777=
XM_011522526.1:c.11326_11342delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520828.1:p.Gln3776=
XM_011522527.1:c.11311_11327delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520829.1:p.Gln3771=
XM_011522528.1:c.11305_11321delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520830.1:p.Gln3769=
XM_011522529.1:c.11302_11318delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520831.1:p.Gln3768=
XM_011522530.1:c.11275_11291delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520832.1:p.Gln3759=
XM_011522531.1:c.11257_11273delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520833.1:p.Gln3753=
XM_011522532.1:c.11203_11219delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520834.1:p.Gln3735=
XM_011522533.1:c.11122_11138delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520835.1:p.Gln3708=
XM_011522534.1:c.11065_11081delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520836.1:p.Gln3689=
XM_011522535.1:c.9151_9167delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520837.1:p.Gln3051=
XM_011522537.1:c.8329_8345delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520839.1:p.Gln2777=
XR_932867.1:n.11344_11360delinsCAGGTGCGGCTGCAGGA (PKD1)
XR_932868.1:n.11110-310_11110-294delinsCAGGTGCGGCTGCAGGA (PKD1)
XR_932869.1:n.11110-310_11110-294delinsCAGGTGCGGCTGCAGGA (PKD1)
XR_932870.1:n.11204_11220delinsCAGGTGCGGCTGCAGGA (PKD1)
XR_933000.1:n.90-407_90-391delinsTCCTGCAGCCGCACCTG (PKD1-AS1)
XR_933001.1:n.180-407_180-391delinsTCCTGCAGCCGCACCTG (PKD1-AS1)
XR_933002.1:n.89-407_89-391delinsTCCTGCAGCCGCACCTG (PKD1-AS1)
XR_933003.1:n.89-407_89-391delinsTCCTGCAGCCGCACCTG (PKD1-AS1)
NR_135175.1:n.180-407_180-391delinsTCCTGCAGCCGCACCTG (PKD1-AS1)
XM_005255370.3:c.8206_8222delinsCAGGTGCGGCTGCAGGA (PKD1) XP_005255427.1:p.Gln2736=
XM_011522528.3:c.11305_11321delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520830.1:p.Gln3769=
XM_011522529.2:c.11302_11318delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520831.1:p.Gln3768=
XM_011522537.2:c.8329_8345delinsCAGGTGCGGCTGCAGGA (PKD1) XP_011520839.1:p.Gln2777=
XM_024450298.1:c.11371_11387delinsCAGGTGCGGCTGCAGGA (PKD1) XP_024306066.1:p.Gln3791=
XM_024450299.1:c.11299_11315delinsCAGGTGCGGCTGCAGGA (PKD1) XP_024306067.1:p.Gln3767=
XM_024450300.1:c.11161_11177delinsCAGGTGCGGCTGCAGGA (PKD1) XP_024306068.1:p.Gln3721=
XM_024450301.1:c.9247_9263delinsCAGGTGCGGCTGCAGGA (PKD1) XP_024306069.1:p.Gln3083=
NM_000296.4:c.11248_11264delinsCAGGTGCGGCTGCAGGA (PKD1) NP_000287.4:p.Gln3750=
NM_001009944.3:c.11251_11267delinsCAGGTGCGGCTGCAGGA (PKD1) MANE Select NP_001009944.3:p.Gln3751=