Canonical Allele Identifier: CA2695222280

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109730del , CM000678.2:g.2109730del	GRCh38
NC_000016.9:g.2159731del , CM000678.1:g.2159731del	GRCh37
NC_000016.8:g.2099732del	NCBI36
NG_008617.1:g.31170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5438del MANE Select	ENSP00000262304.4:p.Gly1813GlufsTer23
ENST00000262304.8:c.5438del	ENSP00000262304.4:p.Gly1813GlufsTer23
ENST00000415938.7:n.310+2611del
ENST00000423118.5:c.5438del	ENSP00000399501.1:p.Gly1813GlufsTer23
ENST00000468674.5:n.431-379del
ENST00000483024.1:c.233+2087del
ENST00000483731.5:n.790+2611del
ENST00000487932.5:c.125del	ENSP00000457132.1:p.Gly42GlufsTer23
ENST00000488185.2:c.473-1371del
ENST00000565639.6:n.773+2611del
ENST00000568591.5:c.2226+2611del	ENSP00000457162.1:n.2226+2611del
ENST00000569983.5:n.421+2611del
NM_000296.3:c.5438del	NP_000287.3:p.Gly1813GlufsTer23
NM_001009944.2:c.5438del	NP_001009944.2:p.Gly1813GlufsTer23
XM_005255370.2:c.2393del	XP_005255427.1:p.Gly798GlufsTer23
XM_011522525.1:c.5516del	XP_011520827.1:p.Gly1839GlufsTer23
XM_011522526.1:c.5516del	XP_011520828.1:p.Gly1839GlufsTer23
XM_011522527.1:c.5516del	XP_011520829.1:p.Gly1839GlufsTer23
XM_011522528.1:c.5492del	XP_011520830.1:p.Gly1831GlufsTer23
XM_011522529.1:c.5492del	XP_011520831.1:p.Gly1831GlufsTer23
XM_011522530.1:c.5462del	XP_011520832.1:p.Gly1821GlufsTer23
XM_011522531.1:c.5444del	XP_011520833.1:p.Gly1815GlufsTer23
XM_011522532.1:c.5390del	XP_011520834.1:p.Gly1797GlufsTer23
XM_011522533.1:c.5309del	XP_011520835.1:p.Gly1770GlufsTer23
XM_011522534.1:c.5252del	XP_011520836.1:p.Gly1751GlufsTer23
XM_011522535.1:c.3338del	XP_011520837.1:p.Gly1113GlufsTer23
XM_011522536.1:c.5516del	XP_011520838.1:p.Gly1839GlufsTer23
XM_011522537.1:c.2516del	XP_011520839.1:p.Gly839GlufsTer23
XR_932867.1:n.5531del
XR_932868.1:n.5531del
XR_932869.1:n.5531del
XR_932870.1:n.5531del
XM_005255370.3:c.2393del	XP_005255427.1:p.Gly798GlufsTer23
XM_011522528.3:c.5492del	XP_011520830.1:p.Gly1831GlufsTer23
XM_011522529.2:c.5492del	XP_011520831.1:p.Gly1831GlufsTer23
XM_011522537.2:c.2516del	XP_011520839.1:p.Gly839GlufsTer23
XM_024450298.1:c.5558del	XP_024306066.1:p.Gly1853GlufsTer23
XM_024450299.1:c.5486del	XP_024306067.1:p.Gly1829GlufsTer23
XM_024450300.1:c.5348del	XP_024306068.1:p.Gly1783GlufsTer23
XM_024450301.1:c.3434del	XP_024306069.1:p.Gly1145GlufsTer23
NM_000296.4:c.5438del	NP_000287.4:p.Gly1813GlufsTer23
NM_001009944.3:c.5438del MANE Select	NP_001009944.3:p.Gly1813GlufsTer23