Canonical Allele Identifier: CA2202026180
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2094124_2094158delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC , CM000678.2:g.2094124_2094158delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC GRCh38
NC_000016.9:g.2144125_2144159delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC , CM000678.1:g.2144125_2144159delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC GRCh37
NC_000016.8:g.2084126_2084160delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC NCBI36
NG_008617.1:g.49063_49097delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.10552_10586delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) MANE Select ENSP00000262304.4:p.Glu3518=
ENST00000262304.8:c.10552_10586delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) ENSP00000262304.4:p.Glu3518=
ENST00000423118.5:c.10549_10583delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) ENSP00000399501.1:p.Glu3517=
ENST00000487932.5:c.5114_5148delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) ENSP00000457132.1:n.5114_5148delinsGAGCTGGGGCCACCCAGCCCAGGCCT...
NM_000296.3:c.10549_10583delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) NP_000287.3:p.Glu3517=
NM_001009944.2:c.10552_10586delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) NP_001009944.2:p.Glu3518=
XM_005255370.2:c.7507_7541delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_005255427.1:p.Glu2503=
XM_011522525.1:c.10630_10664delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520827.1:p.Glu3544=
XM_011522526.1:c.10627_10661delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520828.1:p.Glu3543=
XM_011522527.1:c.10612_10646delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520829.1:p.Glu3538=
XM_011522528.1:c.10606_10640delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520830.1:p.Glu3536=
XM_011522529.1:c.10603_10637delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520831.1:p.Glu3535=
XM_011522530.1:c.10576_10610delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520832.1:p.Glu3526=
XM_011522531.1:c.10558_10592delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520833.1:p.Glu3520=
XM_011522532.1:c.10504_10538delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520834.1:p.Glu3502=
XM_011522533.1:c.10423_10457delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520835.1:p.Glu3475=
XM_011522534.1:c.10366_10400delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520836.1:p.Glu3456=
XM_011522535.1:c.8452_8486delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520837.1:p.Glu2818=
XM_011522537.1:c.7630_7664delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520839.1:p.Glu2544=
XR_932867.1:n.10645_10679delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1)
XR_932868.1:n.10645_10679delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1)
XR_932869.1:n.10645_10679delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1)
XR_932870.1:n.10645_10679delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1)
XR_933000.1:n.214-554_214-520delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC (PKD1-AS1)
XR_933001.1:n.304-597_304-563delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC (PKD1-AS1)
XR_933002.1:n.213-554_213-520delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC (PKD1-AS1)
XR_933003.1:n.213-597_213-563delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC (PKD1-AS1)
NR_135175.1:n.304-597_304-563delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC (PKD1-AS1)
XM_005255370.3:c.7507_7541delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_005255427.1:p.Glu2503=
XM_011522528.3:c.10606_10640delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520830.1:p.Glu3536=
XM_011522529.2:c.10603_10637delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520831.1:p.Glu3535=
XM_011522537.2:c.7630_7664delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_011520839.1:p.Glu2544=
XM_024450298.1:c.10672_10706delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_024306066.1:p.Glu3558=
XM_024450299.1:c.10600_10634delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_024306067.1:p.Glu3534=
XM_024450300.1:c.10462_10496delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_024306068.1:p.Glu3488=
XM_024450301.1:c.8548_8582delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) XP_024306069.1:p.Glu2850=
NM_000296.4:c.10549_10583delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) NP_000287.4:p.Glu3517=
NM_001009944.3:c.10552_10586delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (PKD1) MANE Select NP_001009944.3:p.Glu3518=