Canonical Allele Identifier: CA2202020997
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092485_2092500delinsTGCAGCCGCACCTGCC , CM000678.2:g.2092485_2092500delinsTGCAGCCGCACCTGCC GRCh38
NC_000016.9:g.2142486_2142501delinsTGCAGCCGCACCTGCC , CM000678.1:g.2142486_2142501delinsTGCAGCCGCACCTGCC GRCh37
NC_000016.8:g.2082487_2082502delinsTGCAGCCGCACCTGCC NCBI36
NG_008617.1:g.50721_50736delinsGGCAGGTGCGGCTGCA

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.11249_11264delinsGGCAGGTGCGGCTGCA (PKD1) MANE Select ENSP00000262304.4:p.Arg3750=
ENST00000262304.8:c.11249_11264delinsGGCAGGTGCGGCTGCA (PKD1) ENSP00000262304.4:p.Arg3750=
ENST00000423118.5:c.11246_11261delinsGGCAGGTGCGGCTGCA (PKD1) ENSP00000399501.1:p.Arg3749=
ENST00000485120.1:n.98_113delinsGGCAGGTGCGGCTGCA (PKD1)
ENST00000487932.5:c.5811_5826delinsGGCAGGTGCGGCTGCA (PKD1) ENSP00000457132.1:n.5811_5826delinsGGCAGG...
ENST00000562425.1:c.362_377delinsGGCAGGTGCGGCTGCA (PKD1)
ENST00000567355.1:n.412_427delinsGGCAGGTGCGGCTGCA (PKD1)
NM_000296.3:c.11246_11261delinsGGCAGGTGCGGCTGCA (PKD1) NP_000287.3:p.Arg3749=
NM_001009944.2:c.11249_11264delinsGGCAGGTGCGGCTGCA (PKD1) NP_001009944.2:p.Arg3750=
XM_005255370.2:c.8204_8219delinsGGCAGGTGCGGCTGCA (PKD1) XP_005255427.1:p.Arg2735=
XM_011522525.1:c.11327_11342delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520827.1:p.Arg3776=
XM_011522526.1:c.11324_11339delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520828.1:p.Arg3775=
XM_011522527.1:c.11309_11324delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520829.1:p.Arg3770=
XM_011522528.1:c.11303_11318delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520830.1:p.Arg3768=
XM_011522529.1:c.11300_11315delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520831.1:p.Arg3767=
XM_011522530.1:c.11273_11288delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520832.1:p.Arg3758=
XM_011522531.1:c.11255_11270delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520833.1:p.Arg3752=
XM_011522532.1:c.11201_11216delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520834.1:p.Arg3734=
XM_011522533.1:c.11120_11135delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520835.1:p.Arg3707=
XM_011522534.1:c.11063_11078delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520836.1:p.Arg3688=
XM_011522535.1:c.9149_9164delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520837.1:p.Arg3050=
XM_011522537.1:c.8327_8342delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520839.1:p.Arg2776=
XR_932867.1:n.11342_11357delinsGGCAGGTGCGGCTGCA (PKD1)
XR_932868.1:n.11110-312_11110-297delinsGGCAGGTGCGGCTGCA (PKD1)
XR_932869.1:n.11110-312_11110-297delinsGGCAGGTGCGGCTGCA (PKD1)
XR_932870.1:n.11202_11217delinsGGCAGGTGCGGCTGCA (PKD1)
XR_933000.1:n.90-404_90-389delinsTGCAGCCGCACCTGCC (PKD1-AS1)
XR_933001.1:n.180-404_180-389delinsTGCAGCCGCACCTGCC (PKD1-AS1)
XR_933002.1:n.89-404_89-389delinsTGCAGCCGCACCTGCC (PKD1-AS1)
XR_933003.1:n.89-404_89-389delinsTGCAGCCGCACCTGCC (PKD1-AS1)
NR_135175.1:n.180-404_180-389delinsTGCAGCCGCACCTGCC (PKD1-AS1)
XM_005255370.3:c.8204_8219delinsGGCAGGTGCGGCTGCA (PKD1) XP_005255427.1:p.Arg2735=
XM_011522528.3:c.11303_11318delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520830.1:p.Arg3768=
XM_011522529.2:c.11300_11315delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520831.1:p.Arg3767=
XM_011522537.2:c.8327_8342delinsGGCAGGTGCGGCTGCA (PKD1) XP_011520839.1:p.Arg2776=
XM_024450298.1:c.11369_11384delinsGGCAGGTGCGGCTGCA (PKD1) XP_024306066.1:p.Arg3790=
XM_024450299.1:c.11297_11312delinsGGCAGGTGCGGCTGCA (PKD1) XP_024306067.1:p.Arg3766=
XM_024450300.1:c.11159_11174delinsGGCAGGTGCGGCTGCA (PKD1) XP_024306068.1:p.Arg3720=
XM_024450301.1:c.9245_9260delinsGGCAGGTGCGGCTGCA (PKD1) XP_024306069.1:p.Arg3082=
NM_000296.4:c.11246_11261delinsGGCAGGTGCGGCTGCA (PKD1) NP_000287.4:p.Arg3749=
NM_001009944.3:c.11249_11264delinsGGCAGGTGCGGCTGCA (PKD1) MANE Select NP_001009944.3:p.Arg3750=