Canonical Allele Identifier: CA16042936
Gene: PKD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372964
ClinVar RCV Id: RCV000413784
dbSNP Id: rs1057518104

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092485_2092499dup , CM000678.2:g.2092485_2092499dup GRCh38
NC_000016.9:g.2142486_2142500dup , CM000678.1:g.2142486_2142500dup GRCh37
NC_000016.8:g.2082487_2082501dup NCBI36
NG_008617.1:g.50723_50737dup

Transcript Alleles

HGVS Amino-acid change
NM_000296.3:c.11248_11262dup VV
NM_001009944.2:c.11251_11265dup VV
XM_005255370.2:c.8206_8220dup
XM_011522525.1:c.11329_11343dup
XM_011522526.1:c.11326_11340dup
XM_011522527.1:c.11311_11325dup
XM_011522528.1:c.11305_11319dup
XM_011522529.1:c.11302_11316dup
XM_011522530.1:c.11275_11289dup
XM_011522531.1:c.11257_11271dup
XM_011522532.1:c.11203_11217dup
XM_011522533.1:c.11122_11136dup
XM_011522534.1:c.11065_11079dup
XM_011522535.1:c.9151_9165dup
XM_011522537.1:c.8329_8343dup
XR_932867.1:n.11344_11358dup
XR_932868.1:n.11110-310_11110-296dup
XR_932869.1:n.11110-310_11110-296dup
XR_932870.1:n.11204_11218dup
XR_933000.1:n.90-404_90-390dup
XR_933001.1:n.180-404_180-390dup
XR_933002.1:n.89-404_89-390dup
XR_933003.1:n.89-404_89-390dup
NR_135175.1:n.180-404_180-390dup
XM_005255370.3:c.8206_8220dup
XM_011522528.3:c.11305_11319dup
XM_011522529.2:c.11302_11316dup
XM_011522537.2:c.8329_8343dup
XM_024450298.1:c.11371_11385dup
XM_024450299.1:c.11299_11313dup
XM_024450300.1:c.11161_11175dup
XM_024450301.1:c.9247_9261dup
ENST00000262304.8:c.11251_11265dup
ENST00000423118.5:c.11248_11262dup
ENST00000485120.1:n.100_114dup
ENST00000487932.5:n.5813_5827dup ENSP00000457132.1:p.=
ENST00000562425.1:n.364_378dup
ENST00000567355.1:n.414_428dup