Canonical Allele Identifier: CA915948985
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2091477_2091490del , CM000678.2:g.2091477_2091490del GRCh38
NC_000016.9:g.2141478_2141491del , CM000678.1:g.2141478_2141491del GRCh37
NC_000016.8:g.2081479_2081492del NCBI36
NG_008617.1:g.51735_51748del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11649_11662del (PKD1) MANE Select ENSP00000262304.4:p.Ser3884CysfsTer?
ENST00000262304.8:c.11649_11662del (PKD1) ENSP00000262304.4:p.Ser3884CysfsTer?
ENST00000423118.5:c.11646_11659del (PKD1) ENSP00000399501.1:p.Ser3883CysfsTer?
ENST00000485120.1:n.638_651del (PKD1)
ENST00000487932.5:c.6211_6224del (PKD1) ENSP00000457132.1:n.6211_6224del
ENST00000561668.5:c.310_323del (PKD1)
ENST00000564313.1:n.233+295_234-299del (PKD1)
NM_000296.3:c.11646_11659del (PKD1) NP_000287.3:p.Ser3883CysfsTer?
NM_001009944.2:c.11649_11662del (PKD1) NP_001009944.2:p.Ser3884CysfsTer?
XM_005255370.2:c.8604_8617del (PKD1) XP_005255427.1:p.Ser2869CysfsTer?
XM_011522525.1:c.11727_11740del (PKD1) XP_011520827.1:p.Ser3910CysfsTer?
XM_011522526.1:c.11724_11737del (PKD1) XP_011520828.1:p.Ser3909CysfsTer?
XM_011522527.1:c.11709_11722del (PKD1) XP_011520829.1:p.Ser3904CysfsTer?
XM_011522528.1:c.11703_11716del (PKD1) XP_011520830.1:p.Ser3902CysfsTer?
XM_011522529.1:c.11700_11713del (PKD1) XP_011520831.1:p.Ser3901CysfsTer?
XM_011522530.1:c.11673_11686del (PKD1) XP_011520832.1:p.Ser3892CysfsTer?
XM_011522531.1:c.11655_11668del (PKD1) XP_011520833.1:p.Ser3886CysfsTer?
XM_011522532.1:c.11601_11614del (PKD1) XP_011520834.1:p.Ser3868CysfsTer?
XM_011522533.1:c.11520_11533del (PKD1) XP_011520835.1:p.Ser3841CysfsTer?
XM_011522534.1:c.11463_11476del (PKD1) XP_011520836.1:p.Ser3822CysfsTer?
XM_011522535.1:c.9549_9562del (PKD1) XP_011520837.1:p.Ser3184CysfsTer?
XM_011522537.1:c.8727_8740del (PKD1) XP_011520839.1:p.Ser2910CysfsTer?
XR_932867.1:n.11630+295_11631-299del (PKD1)
XR_932869.1:n.11377+295_11378-299del (PKD1)
XR_933001.1:n.42_55del (PKD1-AS1)
NR_135175.1:n.42_55del (PKD1-AS1)
XM_005255370.3:c.8604_8617del (PKD1) XP_005255427.1:p.Ser2869CysfsTer?
XM_011522528.3:c.11703_11716del (PKD1) XP_011520830.1:p.Ser3902CysfsTer?
XM_011522529.2:c.11700_11713del (PKD1) XP_011520831.1:p.Ser3901CysfsTer?
XM_011522537.2:c.8727_8740del (PKD1) XP_011520839.1:p.Ser2910CysfsTer?
XM_024450298.1:c.11769_11782del (PKD1) XP_024306066.1:p.Ser3924CysfsTer?
XM_024450299.1:c.11697_11710del (PKD1) XP_024306067.1:p.Ser3900CysfsTer?
XM_024450300.1:c.11559_11572del (PKD1) XP_024306068.1:p.Ser3854CysfsTer?
XM_024450301.1:c.9645_9658del (PKD1) XP_024306069.1:p.Ser3216CysfsTer?
NM_000296.4:c.11646_11659del (PKD1) NP_000287.4:p.Ser3883CysfsTer?
NM_001009944.3:c.11649_11662del (PKD1) MANE Select NP_001009944.3:p.Ser3884CysfsTer?