Canonical Allele Identifier: CA2575878509

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106659del , CM000678.2:g.2106659del	GRCh38
NC_000016.9:g.2156660del , CM000678.1:g.2156660del	GRCh37
NC_000016.8:g.2096661del	NCBI36
NG_008617.1:g.34241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7229del MANE Select	ENSP00000262304.4:p.Phe2410SerfsTer?
ENST00000262304.8:c.7229del	ENSP00000262304.4:p.Phe2410SerfsTer?
ENST00000415938.7:n.474del
ENST00000423118.5:c.7229del	ENSP00000399501.1:p.Phe2410SerfsTer?
ENST00000483024.1:c.397del
ENST00000483558.5:n.288del
ENST00000483731.5:n.954del
ENST00000486339.6:n.975del
ENST00000487932.5:c.1916del	ENSP00000457132.1:p.Phe639SerfsTer?
ENST00000496574.6:n.1232del
ENST00000565639.6:n.937del
ENST00000568591.5:c.2390del	ENSP00000457162.1:n.2390del
ENST00000569983.5:n.585del
NM_000296.3:c.7229del	NP_000287.3:p.Phe2410SerfsTer?
NM_001009944.2:c.7229del	NP_001009944.2:p.Phe2410SerfsTer?
XM_005255370.2:c.4184del	XP_005255427.1:p.Phe1395SerfsTer?
XM_011522525.1:c.7307del	XP_011520827.1:p.Phe2436SerfsTer?
XM_011522526.1:c.7307del	XP_011520828.1:p.Phe2436SerfsTer?
XM_011522527.1:c.7307del	XP_011520829.1:p.Phe2436SerfsTer?
XM_011522528.1:c.7283del	XP_011520830.1:p.Phe2428SerfsTer?
XM_011522529.1:c.7283del	XP_011520831.1:p.Phe2428SerfsTer?
XM_011522530.1:c.7253del	XP_011520832.1:p.Phe2418SerfsTer?
XM_011522531.1:c.7235del	XP_011520833.1:p.Phe2412SerfsTer?
XM_011522532.1:c.7181del	XP_011520834.1:p.Phe2394SerfsTer?
XM_011522533.1:c.7100del	XP_011520835.1:p.Phe2367SerfsTer?
XM_011522534.1:c.7043del	XP_011520836.1:p.Phe2348SerfsTer?
XM_011522535.1:c.5129del	XP_011520837.1:p.Phe1710SerfsTer?
XM_011522536.1:c.7307del	XP_011520838.1:p.Phe2436SerfsTer?
XM_011522537.1:c.4307del	XP_011520839.1:p.Phe1436SerfsTer?
XR_932867.1:n.7322del
XR_932868.1:n.7322del
XR_932869.1:n.7322del
XR_932870.1:n.7322del
XM_005255370.3:c.4184del	XP_005255427.1:p.Phe1395SerfsTer?
XM_011522528.3:c.7283del	XP_011520830.1:p.Phe2428SerfsTer?
XM_011522529.2:c.7283del	XP_011520831.1:p.Phe2428SerfsTer?
XM_011522537.2:c.4307del	XP_011520839.1:p.Phe1436SerfsTer?
XM_024450298.1:c.7349del	XP_024306066.1:p.Phe2450SerfsTer?
XM_024450299.1:c.7277del	XP_024306067.1:p.Phe2426SerfsTer?
XM_024450300.1:c.7139del	XP_024306068.1:p.Phe2380SerfsTer?
XM_024450301.1:c.5225del	XP_024306069.1:p.Phe1742SerfsTer?
NM_000296.4:c.7229del	NP_000287.4:p.Phe2410SerfsTer?
NM_001009944.3:c.7229del MANE Select	NP_001009944.3:p.Phe2410SerfsTer?