Canonical Allele Identifier: CA2825002373

Gene: PKD1

Linked Data

• ClinVar Variation Id: 3236089
• ClinVar RCV Id: RCV004555350

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106584dup , CM000678.2:g.2106584dup	GRCh38
NC_000016.9:g.2156585dup , CM000678.1:g.2156585dup	GRCh37
NC_000016.8:g.2096586dup	NCBI36
NG_008617.1:g.34315dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7303dup MANE Select	ENSP00000262304.4:p.Arg2435ProfsTer?
ENST00000262304.8:c.7303dup	ENSP00000262304.4:p.Arg2435ProfsTer?
ENST00000415938.7:n.548dup
ENST00000423118.5:c.7303dup	ENSP00000399501.1:p.Arg2435ProfsTer?
ENST00000483558.5:n.362dup
ENST00000483731.5:n.1028dup
ENST00000486339.6:n.1049dup
ENST00000487932.5:c.1990dup	ENSP00000457132.1:p.Arg664ProfsTer?
ENST00000496574.6:n.1306dup
ENST00000565639.6:n.1011dup
ENST00000568591.5:c.2464dup	ENSP00000457162.1:n.2464dup
ENST00000569983.5:n.659dup
NM_000296.3:c.7303dup	NP_000287.3:p.Arg2435ProfsTer?
NM_001009944.2:c.7303dup	NP_001009944.2:p.Arg2435ProfsTer?
XM_005255370.2:c.4258dup	XP_005255427.1:p.Arg1420ProfsTer?
XM_011522525.1:c.7381dup	XP_011520827.1:p.Arg2461ProfsTer?
XM_011522526.1:c.7381dup	XP_011520828.1:p.Arg2461ProfsTer?
XM_011522527.1:c.7381dup	XP_011520829.1:p.Arg2461ProfsTer?
XM_011522528.1:c.7357dup	XP_011520830.1:p.Arg2453ProfsTer?
XM_011522529.1:c.7357dup	XP_011520831.1:p.Arg2453ProfsTer?
XM_011522530.1:c.7327dup	XP_011520832.1:p.Arg2443ProfsTer?
XM_011522531.1:c.7309dup	XP_011520833.1:p.Arg2437ProfsTer?
XM_011522532.1:c.7255dup	XP_011520834.1:p.Arg2419ProfsTer?
XM_011522533.1:c.7174dup	XP_011520835.1:p.Arg2392ProfsTer?
XM_011522534.1:c.7117dup	XP_011520836.1:p.Arg2373ProfsTer?
XM_011522535.1:c.5203dup	XP_011520837.1:p.Arg1735ProfsTer?
XM_011522536.1:c.7381dup	XP_011520838.1:p.Arg2461ProfsTer?
XM_011522537.1:c.4381dup	XP_011520839.1:p.Arg1461ProfsTer?
XR_932867.1:n.7396dup
XR_932868.1:n.7396dup
XR_932869.1:n.7396dup
XR_932870.1:n.7396dup
XM_005255370.3:c.4258dup	XP_005255427.1:p.Arg1420ProfsTer?
XM_011522528.3:c.7357dup	XP_011520830.1:p.Arg2453ProfsTer?
XM_011522529.2:c.7357dup	XP_011520831.1:p.Arg2453ProfsTer?
XM_011522537.2:c.4381dup	XP_011520839.1:p.Arg1461ProfsTer?
XM_024450298.1:c.7423dup	XP_024306066.1:p.Arg2475ProfsTer?
XM_024450299.1:c.7351dup	XP_024306067.1:p.Arg2451ProfsTer?
XM_024450300.1:c.7213dup	XP_024306068.1:p.Arg2405ProfsTer?
XM_024450301.1:c.5299dup	XP_024306069.1:p.Arg1767ProfsTer?
NM_000296.4:c.7303dup	NP_000287.4:p.Arg2435ProfsTer?
NM_001009944.3:c.7303dup MANE Select	NP_001009944.3:p.Arg2435ProfsTer?