Canonical Allele Identifier: CA2695222563

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114591_2114592del , CM000678.2:g.2114591_2114592del	GRCh38
NC_000016.9:g.2164592_2164593del , CM000678.1:g.2164592_2164593del	GRCh37
NC_000016.8:g.2104593_2104594del	NCBI36
NG_008617.1:g.26310_26311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2434_2435del MANE Select	ENSP00000262304.4:p.Ser812LeufsTer4
ENST00000262304.8:c.2434_2435del	ENSP00000262304.4:p.Ser812LeufsTer4
ENST00000423118.5:c.2434_2435del	ENSP00000399501.1:p.Ser812LeufsTer4
ENST00000488185.2:c.472+2900_472+2901del
ENST00000568591.5:c.1365_1366del	ENSP00000457162.1:n.1365_1366del
NM_000296.3:c.2434_2435del	NP_000287.3:p.Ser812LeufsTer4
NM_001009944.2:c.2434_2435del	NP_001009944.2:p.Ser812LeufsTer4
XM_011522525.1:c.2488_2489del	XP_011520827.1:p.Ser830LeufsTer4
XM_011522526.1:c.2488_2489del	XP_011520828.1:p.Ser830LeufsTer4
XM_011522527.1:c.2488_2489del	XP_011520829.1:p.Ser830LeufsTer4
XM_011522528.1:c.2488_2489del	XP_011520830.1:p.Ser830LeufsTer4
XM_011522529.1:c.2488_2489del	XP_011520831.1:p.Ser830LeufsTer4
XM_011522530.1:c.2434_2435del	XP_011520832.1:p.Ser812LeufsTer4
XM_011522531.1:c.2416_2417del	XP_011520833.1:p.Ser806LeufsTer4
XM_011522532.1:c.2362_2363del	XP_011520834.1:p.Ser788LeufsTer4
XM_011522533.1:c.2281_2282del	XP_011520835.1:p.Ser761LeufsTer4
XM_011522534.1:c.2224_2225del	XP_011520836.1:p.Ser742LeufsTer4
XM_011522535.1:c.310_311del	XP_011520837.1:p.Ser104LeufsTer4
XM_011522536.1:c.2488_2489del	XP_011520838.1:p.Ser830LeufsTer4
XR_932867.1:n.2503_2504del
XR_932868.1:n.2503_2504del
XR_932869.1:n.2503_2504del
XR_932870.1:n.2503_2504del
XM_005255370.3:c.-616_-615del	XP_005255427.1:n.-616_-615del
XM_011522528.3:c.2488_2489del	XP_011520830.1:p.Ser830LeufsTer4
XM_011522529.2:c.2488_2489del	XP_011520831.1:p.Ser830LeufsTer4
XM_024450298.1:c.2434_2435del	XP_024306066.1:p.Ser812LeufsTer4
XM_024450299.1:c.2362_2363del	XP_024306067.1:p.Ser788LeufsTer4
XM_024450300.1:c.2224_2225del	XP_024306068.1:p.Ser742LeufsTer4
XM_024450301.1:c.310_311del	XP_024306069.1:p.Ser104LeufsTer4
NM_000296.4:c.2434_2435del	NP_000287.4:p.Ser812LeufsTer4
NM_001009944.3:c.2434_2435del MANE Select	NP_001009944.3:p.Ser812LeufsTer4