Canonical Allele Identifier: CA2695221564
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2090553dup , CM000678.2:g.2090553dup GRCh38
NC_000016.9:g.2140554dup , CM000678.1:g.2140554dup GRCh37
NC_000016.8:g.2080555dup NCBI36
NG_005895.1:g.46248dup , LRG_487:g.46248dup
NG_008617.1:g.52670dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.12178dup MANE Select ENSP00000262304.4:p.Gln4060ProfsTer?
ENST00000262304.8:c.12178dup ENSP00000262304.4:p.Gln4060ProfsTer?
ENST00000423118.5:c.12175dup ENSP00000399501.1:p.Gln4059ProfsTer?
ENST00000472577.1:n.206dup
NM_000296.3:c.12175dup NP_000287.3:p.Gln4059ProfsTer?
NM_001009944.2:c.12178dup NP_001009944.2:p.Gln4060ProfsTer?
XM_005255370.2:c.9133dup XP_005255427.1:p.Gln3045ProfsTer?
XM_011522525.1:c.12256dup XP_011520827.1:p.Gln4086ProfsTer?
XM_011522526.1:c.12253dup XP_011520828.1:p.Gln4085ProfsTer?
XM_011522527.1:c.12238dup XP_011520829.1:p.Gln4080ProfsTer?
XM_011522528.1:c.12232dup XP_011520830.1:p.Gln4078ProfsTer?
XM_011522529.1:c.12229dup XP_011520831.1:p.Gln4077ProfsTer?
XM_011522530.1:c.12202dup XP_011520832.1:p.Gln4068ProfsTer?
XM_011522531.1:c.12184dup XP_011520833.1:p.Gln4062ProfsTer?
XM_011522532.1:c.12130dup XP_011520834.1:p.Gln4044ProfsTer?
XM_011522533.1:c.12049dup XP_011520835.1:p.Gln4017ProfsTer?
XM_011522534.1:c.11992dup XP_011520836.1:p.Gln3998ProfsTer?
XM_011522535.1:c.10078dup XP_011520837.1:p.Gln3360ProfsTer?
XM_011522537.1:c.9256dup XP_011520839.1:p.Gln3086ProfsTer?
XR_932867.1:n.12096dup
XM_005255370.3:c.9133dup XP_005255427.1:p.Gln3045ProfsTer?
XM_011522528.3:c.12232dup XP_011520830.1:p.Gln4078ProfsTer?
XM_011522529.2:c.12229dup XP_011520831.1:p.Gln4077ProfsTer?
XM_011522537.2:c.9256dup XP_011520839.1:p.Gln3086ProfsTer?
XM_024450298.1:c.12298dup XP_024306066.1:p.Gln4100ProfsTer?
XM_024450299.1:c.12226dup XP_024306067.1:p.Gln4076ProfsTer?
XM_024450300.1:c.12088dup XP_024306068.1:p.Gln4030ProfsTer?
XM_024450301.1:c.10174dup XP_024306069.1:p.Gln3392ProfsTer?
NM_000296.4:c.12175dup NP_000287.4:p.Gln4059ProfsTer?
NM_001009944.3:c.12178dup MANE Select NP_001009944.3:p.Gln4060ProfsTer?