Canonical Allele Identifier: CA2202047762

Gene: PKD1

Linked Data

• ClinVar Variation Id: 997274
• ClinVar RCV Id: RCV001292292
• dbSNP Id: rs2092509681

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111678_2111681delinsAAAC , CM000678.2:g.2111678_2111681delinsAAAC	GRCh38
NC_000016.9:g.2161679_2161682delinsAAAC , CM000678.1:g.2161679_2161682delinsAAAC	GRCh37
NC_000016.8:g.2101680_2101683delinsAAAC	NCBI36
NG_008617.1:g.29218_29221delinsGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3486_3489delinsGTTT MANE Select	ENSP00000262304.4:p.Asp1162Glu
ENST00000262304.8:c.3486_3489delinsGTTT	ENSP00000262304.4:p.Asp1162Glu
ENST00000415938.7:n.310+659_310+662delinsGTTT
ENST00000423118.5:c.3486_3489delinsGTTT	ENSP00000399501.1:p.Asp1162Glu
ENST00000468674.5:n.430+659_430+662delinsGTTT
ENST00000469241.2:n.436_439delinsGTTT
ENST00000483024.1:c.233+135_233+138delinsGTTT
ENST00000483731.5:n.790+659_790+662delinsGTTT
ENST00000488185.2:c.473-3323_473-3320delinsGTTT
ENST00000565639.6:n.773+659_773+662delinsGTTT
ENST00000568591.5:c.2226+659_2226+662delinsGTTT	ENSP00000457162.1:n.2226+659_2226+662delinsGTTT
ENST00000569983.5:n.421+659_421+662delinsGTTT
NM_000296.3:c.3486_3489delinsGTTT	NP_000287.3:p.Asp1162Glu
NM_001009944.2:c.3486_3489delinsGTTT	NP_001009944.2:p.Asp1162Glu
XM_005255370.2:c.441_444delinsGTTT	XP_005255427.1:p.Asp147Glu
XM_011522525.1:c.3564_3567delinsGTTT	XP_011520827.1:p.Asp1188Glu
XM_011522526.1:c.3564_3567delinsGTTT	XP_011520828.1:p.Asp1188Glu
XM_011522527.1:c.3564_3567delinsGTTT	XP_011520829.1:p.Asp1188Glu
XM_011522528.1:c.3540_3543delinsGTTT	XP_011520830.1:p.Asp1180Glu
XM_011522529.1:c.3540_3543delinsGTTT	XP_011520831.1:p.Asp1180Glu
XM_011522530.1:c.3510_3513delinsGTTT	XP_011520832.1:p.Asp1170Glu
XM_011522531.1:c.3492_3495delinsGTTT	XP_011520833.1:p.Asp1164Glu
XM_011522532.1:c.3438_3441delinsGTTT	XP_011520834.1:p.Asp1146Glu
XM_011522533.1:c.3357_3360delinsGTTT	XP_011520835.1:p.Asp1119Glu
XM_011522534.1:c.3300_3303delinsGTTT	XP_011520836.1:p.Asp1100Glu
XM_011522535.1:c.1386_1389delinsGTTT	XP_011520837.1:p.Asp462Glu
XM_011522536.1:c.3564_3567delinsGTTT	XP_011520838.1:p.Asp1188Glu
XM_011522537.1:c.564_567delinsGTTT	XP_011520839.1:p.Asp188Glu
XR_932867.1:n.3579_3582delinsGTTT
XR_932868.1:n.3579_3582delinsGTTT
XR_932869.1:n.3579_3582delinsGTTT
XR_932870.1:n.3579_3582delinsGTTT
XM_005255370.3:c.441_444delinsGTTT	XP_005255427.1:p.Asp147Glu
XM_011522528.3:c.3540_3543delinsGTTT	XP_011520830.1:p.Asp1180Glu
XM_011522529.2:c.3540_3543delinsGTTT	XP_011520831.1:p.Asp1180Glu
XM_011522537.2:c.564_567delinsGTTT	XP_011520839.1:p.Asp188Glu
XM_024450298.1:c.3606_3609delinsGTTT	XP_024306066.1:p.Asp1202Glu
XM_024450299.1:c.3534_3537delinsGTTT	XP_024306067.1:p.Asp1178Glu
XM_024450300.1:c.3396_3399delinsGTTT	XP_024306068.1:p.Asp1132Glu
XM_024450301.1:c.1482_1485delinsGTTT	XP_024306069.1:p.Asp494Glu
NM_000296.4:c.3486_3489delinsGTTT	NP_000287.4:p.Asp1162Glu
NM_001009944.3:c.3486_3489delinsGTTT MANE Select	NP_001009944.3:p.Asp1162Glu