Canonical Allele Identifier: CA2695222230

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106561del , CM000678.2:g.2106561del	GRCh38
NC_000016.9:g.2156562del , CM000678.1:g.2156562del	GRCh37
NC_000016.8:g.2096563del	NCBI36
NG_008617.1:g.34340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7328del MANE Select	ENSP00000262304.4:p.Gly2443AspfsTer?
ENST00000262304.8:c.7328del	ENSP00000262304.4:p.Gly2443AspfsTer?
ENST00000415938.7:n.573del
ENST00000423118.5:c.7328del	ENSP00000399501.1:p.Gly2443AspfsTer?
ENST00000483558.5:n.387del
ENST00000483731.5:n.1053del
ENST00000486339.6:n.1074del
ENST00000487932.5:c.2015del	ENSP00000457132.1:p.Gly672AspfsTer?
ENST00000496574.6:n.1331del
ENST00000565639.6:n.1036del
ENST00000568591.5:c.2489del	ENSP00000457162.1:n.2489del
ENST00000569983.5:n.684del
NM_000296.3:c.7328del	NP_000287.3:p.Gly2443AspfsTer?
NM_001009944.2:c.7328del	NP_001009944.2:p.Gly2443AspfsTer?
XM_005255370.2:c.4283del	XP_005255427.1:p.Gly1428AspfsTer?
XM_011522525.1:c.7406del	XP_011520827.1:p.Gly2469AspfsTer?
XM_011522526.1:c.7406del	XP_011520828.1:p.Gly2469AspfsTer?
XM_011522527.1:c.7406del	XP_011520829.1:p.Gly2469AspfsTer?
XM_011522528.1:c.7382del	XP_011520830.1:p.Gly2461AspfsTer?
XM_011522529.1:c.7382del	XP_011520831.1:p.Gly2461AspfsTer?
XM_011522530.1:c.7352del	XP_011520832.1:p.Gly2451AspfsTer?
XM_011522531.1:c.7334del	XP_011520833.1:p.Gly2445AspfsTer?
XM_011522532.1:c.7280del	XP_011520834.1:p.Gly2427AspfsTer?
XM_011522533.1:c.7199del	XP_011520835.1:p.Gly2400AspfsTer?
XM_011522534.1:c.7142del	XP_011520836.1:p.Gly2381AspfsTer?
XM_011522535.1:c.5228del	XP_011520837.1:p.Gly1743AspfsTer?
XM_011522536.1:c.7406del	XP_011520838.1:p.Gly2469AspfsTer?
XM_011522537.1:c.4406del	XP_011520839.1:p.Gly1469AspfsTer?
XR_932867.1:n.7421del
XR_932868.1:n.7421del
XR_932869.1:n.7421del
XR_932870.1:n.7421del
XM_005255370.3:c.4283del	XP_005255427.1:p.Gly1428AspfsTer?
XM_011522528.3:c.7382del	XP_011520830.1:p.Gly2461AspfsTer?
XM_011522529.2:c.7382del	XP_011520831.1:p.Gly2461AspfsTer?
XM_011522537.2:c.4406del	XP_011520839.1:p.Gly1469AspfsTer?
XM_024450298.1:c.7448del	XP_024306066.1:p.Gly2483AspfsTer?
XM_024450299.1:c.7376del	XP_024306067.1:p.Gly2459AspfsTer?
XM_024450300.1:c.7238del	XP_024306068.1:p.Gly2413AspfsTer?
XM_024450301.1:c.5324del	XP_024306069.1:p.Gly1775AspfsTer?
NM_000296.4:c.7328del	NP_000287.4:p.Gly2443AspfsTer?
NM_001009944.3:c.7328del MANE Select	NP_001009944.3:p.Gly2443AspfsTer?