Canonical Allele Identifier: CA2695196535

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114472_2114473del , CM000678.2:g.2114472_2114473del	GRCh38
NC_000016.9:g.2164473_2164474del , CM000678.1:g.2164473_2164474del	GRCh37
NC_000016.8:g.2104474_2104475del	NCBI36
NG_008617.1:g.26428_26429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2552_2553del MANE Select	ENSP00000262304.4:p.Ser851TrpfsTer20
ENST00000262304.8:c.2552_2553del	ENSP00000262304.4:p.Ser851TrpfsTer20
ENST00000423118.5:c.2552_2553del	ENSP00000399501.1:p.Ser851TrpfsTer20
ENST00000488185.2:c.472+3018_472+3019del
ENST00000565639.6:n.11_12del
ENST00000568591.5:c.1483_1484del	ENSP00000457162.1:n.1483_1484del
NM_000296.3:c.2552_2553del	NP_000287.3:p.Ser851TrpfsTer20
NM_001009944.2:c.2552_2553del	NP_001009944.2:p.Ser851TrpfsTer20
XM_011522525.1:c.2606_2607del	XP_011520827.1:p.Ser869TrpfsTer20
XM_011522526.1:c.2606_2607del	XP_011520828.1:p.Ser869TrpfsTer20
XM_011522527.1:c.2606_2607del	XP_011520829.1:p.Ser869TrpfsTer20
XM_011522528.1:c.2606_2607del	XP_011520830.1:p.Ser869TrpfsTer20
XM_011522529.1:c.2606_2607del	XP_011520831.1:p.Ser869TrpfsTer20
XM_011522530.1:c.2552_2553del	XP_011520832.1:p.Ser851TrpfsTer20
XM_011522531.1:c.2534_2535del	XP_011520833.1:p.Ser845TrpfsTer20
XM_011522532.1:c.2480_2481del	XP_011520834.1:p.Ser827TrpfsTer20
XM_011522533.1:c.2399_2400del	XP_011520835.1:p.Ser800TrpfsTer20
XM_011522534.1:c.2342_2343del	XP_011520836.1:p.Ser781TrpfsTer20
XM_011522535.1:c.428_429del	XP_011520837.1:p.Ser143TrpfsTer20
XM_011522536.1:c.2606_2607del	XP_011520838.1:p.Ser869TrpfsTer20
XR_932867.1:n.2621_2622del
XR_932868.1:n.2621_2622del
XR_932869.1:n.2621_2622del
XR_932870.1:n.2621_2622del
XM_005255370.3:c.-498_-497del	XP_005255427.1:n.-498_-497del
XM_011522528.3:c.2606_2607del	XP_011520830.1:p.Ser869TrpfsTer20
XM_011522529.2:c.2606_2607del	XP_011520831.1:p.Ser869TrpfsTer20
XM_024450298.1:c.2552_2553del	XP_024306066.1:p.Ser851TrpfsTer20
XM_024450299.1:c.2480_2481del	XP_024306067.1:p.Ser827TrpfsTer20
XM_024450300.1:c.2342_2343del	XP_024306068.1:p.Ser781TrpfsTer20
XM_024450301.1:c.428_429del	XP_024306069.1:p.Ser143TrpfsTer20
NM_000296.4:c.2552_2553del	NP_000287.4:p.Ser851TrpfsTer20
NM_001009944.3:c.2552_2553del MANE Select	NP_001009944.3:p.Ser851TrpfsTer20