Canonical Allele Identifier: CA2695222254

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106608_2106624del , CM000678.2:g.2106608_2106624del	GRCh38
NC_000016.9:g.2156609_2156625del , CM000678.1:g.2156609_2156625del	GRCh37
NC_000016.8:g.2096610_2096626del	NCBI36
NG_008617.1:g.34277_34293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7265_7281del MANE Select	ENSP00000262304.4:p.Thr2422ArgfsTer?
ENST00000262304.8:c.7265_7281del	ENSP00000262304.4:p.Thr2422ArgfsTer?
ENST00000415938.7:n.510_526del
ENST00000423118.5:c.7265_7281del	ENSP00000399501.1:p.Thr2422ArgfsTer?
ENST00000483024.1:c.433_449del
ENST00000483558.5:n.324_340del
ENST00000483731.5:n.990_1006del
ENST00000486339.6:n.1011_1027del
ENST00000487932.5:c.1952_1968del	ENSP00000457132.1:p.Thr651ArgfsTer?
ENST00000496574.6:n.1268_1284del
ENST00000565639.6:n.973_989del
ENST00000568591.5:c.2426_2442del	ENSP00000457162.1:n.2426_2442del
ENST00000569983.5:n.621_637del
NM_000296.3:c.7265_7281del	NP_000287.3:p.Thr2422ArgfsTer?
NM_001009944.2:c.7265_7281del	NP_001009944.2:p.Thr2422ArgfsTer?
XM_005255370.2:c.4220_4236del	XP_005255427.1:p.Thr1407ArgfsTer?
XM_011522525.1:c.7343_7359del	XP_011520827.1:p.Thr2448ArgfsTer?
XM_011522526.1:c.7343_7359del	XP_011520828.1:p.Thr2448ArgfsTer?
XM_011522527.1:c.7343_7359del	XP_011520829.1:p.Thr2448ArgfsTer?
XM_011522528.1:c.7319_7335del	XP_011520830.1:p.Thr2440ArgfsTer?
XM_011522529.1:c.7319_7335del	XP_011520831.1:p.Thr2440ArgfsTer?
XM_011522530.1:c.7289_7305del	XP_011520832.1:p.Thr2430ArgfsTer?
XM_011522531.1:c.7271_7287del	XP_011520833.1:p.Thr2424ArgfsTer?
XM_011522532.1:c.7217_7233del	XP_011520834.1:p.Thr2406ArgfsTer?
XM_011522533.1:c.7136_7152del	XP_011520835.1:p.Thr2379ArgfsTer?
XM_011522534.1:c.7079_7095del	XP_011520836.1:p.Thr2360ArgfsTer?
XM_011522535.1:c.5165_5181del	XP_011520837.1:p.Thr1722ArgfsTer?
XM_011522536.1:c.7343_7359del	XP_011520838.1:p.Thr2448ArgfsTer?
XM_011522537.1:c.4343_4359del	XP_011520839.1:p.Thr1448ArgfsTer?
XR_932867.1:n.7358_7374del
XR_932868.1:n.7358_7374del
XR_932869.1:n.7358_7374del
XR_932870.1:n.7358_7374del
XM_005255370.3:c.4220_4236del	XP_005255427.1:p.Thr1407ArgfsTer?
XM_011522528.3:c.7319_7335del	XP_011520830.1:p.Thr2440ArgfsTer?
XM_011522529.2:c.7319_7335del	XP_011520831.1:p.Thr2440ArgfsTer?
XM_011522537.2:c.4343_4359del	XP_011520839.1:p.Thr1448ArgfsTer?
XM_024450298.1:c.7385_7401del	XP_024306066.1:p.Thr2462ArgfsTer?
XM_024450299.1:c.7313_7329del	XP_024306067.1:p.Thr2438ArgfsTer?
XM_024450300.1:c.7175_7191del	XP_024306068.1:p.Thr2392ArgfsTer?
XM_024450301.1:c.5261_5277del	XP_024306069.1:p.Thr1754ArgfsTer?
NM_000296.4:c.7265_7281del	NP_000287.4:p.Thr2422ArgfsTer?
NM_001009944.3:c.7265_7281del MANE Select	NP_001009944.3:p.Thr2422ArgfsTer?