Canonical Allele Identifier: CA2695221581
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092473_2092484del , CM000678.2:g.2092473_2092484del GRCh38
NC_000016.9:g.2142474_2142485del , CM000678.1:g.2142474_2142485del GRCh37
NC_000016.8:g.2082475_2082486del NCBI36
NG_008617.1:g.50739_50750del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11267_11269+9del (PKD1)
ENST00000262304.8:c.11267_11269+9del (PKD1)
ENST00000423118.5:c.11264_11266+9del (PKD1)
ENST00000485120.1:n.116_118+9del (PKD1)
ENST00000487932.5:c.5829_5831+9del (PKD1)
ENST00000562425.1:c.380_382+9del (PKD1)
ENST00000567355.1:n.430_432+9del (PKD1)
NM_000296.3:c.11264_11266+9del (PKD1)
NM_001009944.2:c.11267_11269+9del (PKD1)
XM_005255370.2:c.8222_8224+9del (PKD1)
XM_011522525.1:c.11345_11347+9del (PKD1)
XM_011522526.1:c.11342_11344+9del (PKD1)
XM_011522527.1:c.11327_11329+9del (PKD1)
XM_011522528.1:c.11321_11323+9del (PKD1)
XM_011522529.1:c.11318_11320+9del (PKD1)
XM_011522530.1:c.11291_11293+9del (PKD1)
XM_011522531.1:c.11273_11275+9del (PKD1)
XM_011522532.1:c.11219_11221+9del (PKD1)
XM_011522533.1:c.11138_11140+9del (PKD1)
XM_011522534.1:c.11081_11083+9del (PKD1)
XM_011522535.1:c.9167_9169+9del (PKD1)
XM_011522537.1:c.8345_8347+9del (PKD1)
XR_932867.1:n.11360_11362+9del (PKD1)
XR_932868.1:n.11110-294_11110-283del (PKD1)
XR_932869.1:n.11110-294_11110-283del (PKD1)
XR_932870.1:n.11220_11222+9del (PKD1)
XR_933000.1:n.90-416_90-405del (PKD1-AS1)
XR_933001.1:n.180-416_180-405del (PKD1-AS1)
XR_933002.1:n.89-416_89-405del (PKD1-AS1)
XR_933003.1:n.89-416_89-405del (PKD1-AS1)
NR_135175.1:n.180-416_180-405del (PKD1-AS1)
XM_005255370.3:c.8222_8224+9del (PKD1)
XM_011522528.3:c.11321_11323+9del (PKD1)
XM_011522529.2:c.11318_11320+9del (PKD1)
XM_011522537.2:c.8345_8347+9del (PKD1)
XM_024450298.1:c.11387_11389+9del (PKD1)
XM_024450299.1:c.11315_11317+9del (PKD1)
XM_024450300.1:c.11177_11179+9del (PKD1)
XM_024450301.1:c.9263_9265+9del (PKD1)
NM_000296.4:c.11264_11266+9del (PKD1)
NM_001009944.3:c.11267_11269+9del (PKD1)