Canonical Allele Identifier: CA2695222282

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109733del , CM000678.2:g.2109733del	GRCh38
NC_000016.9:g.2159734del , CM000678.1:g.2159734del	GRCh37
NC_000016.8:g.2099735del	NCBI36
NG_008617.1:g.31168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5436del MANE Select	ENSP00000262304.4:p.Gly1813GlufsTer23
ENST00000262304.8:c.5436del	ENSP00000262304.4:p.Gly1813GlufsTer23
ENST00000415938.7:n.310+2609del
ENST00000423118.5:c.5436del	ENSP00000399501.1:p.Gly1813GlufsTer23
ENST00000468674.5:n.431-381del
ENST00000483024.1:c.233+2085del
ENST00000483731.5:n.790+2609del
ENST00000487932.5:c.123del	ENSP00000457132.1:p.Gly42GlufsTer23
ENST00000488185.2:c.473-1373del
ENST00000565639.6:n.773+2609del
ENST00000568591.5:c.2226+2609del	ENSP00000457162.1:n.2226+2609del
ENST00000569983.5:n.421+2609del
NM_000296.3:c.5436del	NP_000287.3:p.Gly1813GlufsTer23
NM_001009944.2:c.5436del	NP_001009944.2:p.Gly1813GlufsTer23
XM_005255370.2:c.2391del	XP_005255427.1:p.Gly798GlufsTer23
XM_011522525.1:c.5514del	XP_011520827.1:p.Gly1839GlufsTer23
XM_011522526.1:c.5514del	XP_011520828.1:p.Gly1839GlufsTer23
XM_011522527.1:c.5514del	XP_011520829.1:p.Gly1839GlufsTer23
XM_011522528.1:c.5490del	XP_011520830.1:p.Gly1831GlufsTer23
XM_011522529.1:c.5490del	XP_011520831.1:p.Gly1831GlufsTer23
XM_011522530.1:c.5460del	XP_011520832.1:p.Gly1821GlufsTer23
XM_011522531.1:c.5442del	XP_011520833.1:p.Gly1815GlufsTer23
XM_011522532.1:c.5388del	XP_011520834.1:p.Gly1797GlufsTer23
XM_011522533.1:c.5307del	XP_011520835.1:p.Gly1770GlufsTer23
XM_011522534.1:c.5250del	XP_011520836.1:p.Gly1751GlufsTer23
XM_011522535.1:c.3336del	XP_011520837.1:p.Gly1113GlufsTer23
XM_011522536.1:c.5514del	XP_011520838.1:p.Gly1839GlufsTer23
XM_011522537.1:c.2514del	XP_011520839.1:p.Gly839GlufsTer23
XR_932867.1:n.5529del
XR_932868.1:n.5529del
XR_932869.1:n.5529del
XR_932870.1:n.5529del
XM_005255370.3:c.2391del	XP_005255427.1:p.Gly798GlufsTer23
XM_011522528.3:c.5490del	XP_011520830.1:p.Gly1831GlufsTer23
XM_011522529.2:c.5490del	XP_011520831.1:p.Gly1831GlufsTer23
XM_011522537.2:c.2514del	XP_011520839.1:p.Gly839GlufsTer23
XM_024450298.1:c.5556del	XP_024306066.1:p.Gly1853GlufsTer23
XM_024450299.1:c.5484del	XP_024306067.1:p.Gly1829GlufsTer23
XM_024450300.1:c.5346del	XP_024306068.1:p.Gly1783GlufsTer23
XM_024450301.1:c.3432del	XP_024306069.1:p.Gly1145GlufsTer23
NM_000296.4:c.5436del	NP_000287.4:p.Gly1813GlufsTer23
NM_001009944.3:c.5436del MANE Select	NP_001009944.3:p.Gly1813GlufsTer23