Canonical Allele Identifier: CA2695222271

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109631del , CM000678.2:g.2109631del	GRCh38
NC_000016.9:g.2159632del , CM000678.1:g.2159632del	GRCh37
NC_000016.8:g.2099633del	NCBI36
NG_008617.1:g.31268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5536del MANE Select	ENSP00000262304.4:p.Ser1846AlafsTer?
ENST00000262304.8:c.5536del	ENSP00000262304.4:p.Ser1846AlafsTer?
ENST00000415938.7:n.311-2683del
ENST00000423118.5:c.5536del	ENSP00000399501.1:p.Ser1846AlafsTer?
ENST00000468674.5:n.431-281del
ENST00000483024.1:c.233+2185del
ENST00000483731.5:n.791-2683del
ENST00000487932.5:c.223del	ENSP00000457132.1:p.Ser75AlafsTer?
ENST00000488185.2:c.473-1273del
ENST00000565639.6:n.774-2683del
ENST00000568591.5:c.2227-2683del	ENSP00000457162.1:n.2227-2683del
ENST00000569983.5:n.422-2683del
NM_000296.3:c.5536del	NP_000287.3:p.Ser1846AlafsTer?
NM_001009944.2:c.5536del	NP_001009944.2:p.Ser1846AlafsTer?
XM_005255370.2:c.2491del	XP_005255427.1:p.Ser831AlafsTer?
XM_011522525.1:c.5614del	XP_011520827.1:p.Ser1872AlafsTer?
XM_011522526.1:c.5614del	XP_011520828.1:p.Ser1872AlafsTer?
XM_011522527.1:c.5614del	XP_011520829.1:p.Ser1872AlafsTer?
XM_011522528.1:c.5590del	XP_011520830.1:p.Ser1864AlafsTer?
XM_011522529.1:c.5590del	XP_011520831.1:p.Ser1864AlafsTer?
XM_011522530.1:c.5560del	XP_011520832.1:p.Ser1854AlafsTer?
XM_011522531.1:c.5542del	XP_011520833.1:p.Ser1848AlafsTer?
XM_011522532.1:c.5488del	XP_011520834.1:p.Ser1830AlafsTer?
XM_011522533.1:c.5407del	XP_011520835.1:p.Ser1803AlafsTer?
XM_011522534.1:c.5350del	XP_011520836.1:p.Ser1784AlafsTer?
XM_011522535.1:c.3436del	XP_011520837.1:p.Ser1146AlafsTer?
XM_011522536.1:c.5614del	XP_011520838.1:p.Ser1872AlafsTer?
XM_011522537.1:c.2614del	XP_011520839.1:p.Ser872AlafsTer?
XR_932867.1:n.5629del
XR_932868.1:n.5629del
XR_932869.1:n.5629del
XR_932870.1:n.5629del
XM_005255370.3:c.2491del	XP_005255427.1:p.Ser831AlafsTer?
XM_011522528.3:c.5590del	XP_011520830.1:p.Ser1864AlafsTer?
XM_011522529.2:c.5590del	XP_011520831.1:p.Ser1864AlafsTer?
XM_011522537.2:c.2614del	XP_011520839.1:p.Ser872AlafsTer?
XM_024450298.1:c.5656del	XP_024306066.1:p.Ser1886AlafsTer?
XM_024450299.1:c.5584del	XP_024306067.1:p.Ser1862AlafsTer?
XM_024450300.1:c.5446del	XP_024306068.1:p.Ser1816AlafsTer?
XM_024450301.1:c.3532del	XP_024306069.1:p.Ser1178AlafsTer?
NM_000296.4:c.5536del	NP_000287.4:p.Ser1846AlafsTer?
NM_001009944.3:c.5536del MANE Select	NP_001009944.3:p.Ser1846AlafsTer?