Canonical Allele Identifier: CA2838032799

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106646del , CM000678.2:g.2106646del	GRCh38
NC_000016.9:g.2156647del , CM000678.1:g.2156647del	GRCh37
NC_000016.8:g.2096648del	NCBI36
NG_008617.1:g.34253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7241del MANE Select	ENSP00000262304.4:p.Thr2414SerfsTer?
ENST00000262304.8:c.7241del	ENSP00000262304.4:p.Thr2414SerfsTer?
ENST00000415938.7:n.486del
ENST00000423118.5:c.7241del	ENSP00000399501.1:p.Thr2414SerfsTer?
ENST00000483024.1:c.409del
ENST00000483558.5:n.300del
ENST00000483731.5:n.966del
ENST00000486339.6:n.987del
ENST00000487932.5:c.1928del	ENSP00000457132.1:p.Thr643SerfsTer?
ENST00000496574.6:n.1244del
ENST00000565639.6:n.949del
ENST00000568591.5:c.2402del	ENSP00000457162.1:n.2402del
ENST00000569983.5:n.597del
NM_000296.3:c.7241del	NP_000287.3:p.Thr2414SerfsTer?
NM_001009944.2:c.7241del	NP_001009944.2:p.Thr2414SerfsTer?
XM_005255370.2:c.4196del	XP_005255427.1:p.Thr1399SerfsTer?
XM_011522525.1:c.7319del	XP_011520827.1:p.Thr2440SerfsTer?
XM_011522526.1:c.7319del	XP_011520828.1:p.Thr2440SerfsTer?
XM_011522527.1:c.7319del	XP_011520829.1:p.Thr2440SerfsTer?
XM_011522528.1:c.7295del	XP_011520830.1:p.Thr2432SerfsTer?
XM_011522529.1:c.7295del	XP_011520831.1:p.Thr2432SerfsTer?
XM_011522530.1:c.7265del	XP_011520832.1:p.Thr2422SerfsTer?
XM_011522531.1:c.7247del	XP_011520833.1:p.Thr2416SerfsTer?
XM_011522532.1:c.7193del	XP_011520834.1:p.Thr2398SerfsTer?
XM_011522533.1:c.7112del	XP_011520835.1:p.Thr2371SerfsTer?
XM_011522534.1:c.7055del	XP_011520836.1:p.Thr2352SerfsTer?
XM_011522535.1:c.5141del	XP_011520837.1:p.Thr1714SerfsTer?
XM_011522536.1:c.7319del	XP_011520838.1:p.Thr2440SerfsTer?
XM_011522537.1:c.4319del	XP_011520839.1:p.Thr1440SerfsTer?
XR_932867.1:n.7334del
XR_932868.1:n.7334del
XR_932869.1:n.7334del
XR_932870.1:n.7334del
XM_005255370.3:c.4196del	XP_005255427.1:p.Thr1399SerfsTer?
XM_011522528.3:c.7295del	XP_011520830.1:p.Thr2432SerfsTer?
XM_011522529.2:c.7295del	XP_011520831.1:p.Thr2432SerfsTer?
XM_011522537.2:c.4319del	XP_011520839.1:p.Thr1440SerfsTer?
XM_024450298.1:c.7361del	XP_024306066.1:p.Thr2454SerfsTer?
XM_024450299.1:c.7289del	XP_024306067.1:p.Thr2430SerfsTer?
XM_024450300.1:c.7151del	XP_024306068.1:p.Thr2384SerfsTer?
XM_024450301.1:c.5237del	XP_024306069.1:p.Thr1746SerfsTer?
NM_000296.4:c.7241del	NP_000287.4:p.Thr2414SerfsTer?
NM_001009944.3:c.7241del MANE Select	NP_001009944.3:p.Thr2414SerfsTer?