Canonical Allele Identifier: CA2202049688

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114401_2114405delinsGCAGA , CM000678.2:g.2114401_2114405delinsGCAGA	GRCh38
NC_000016.9:g.2164402_2164406delinsGCAGA , CM000678.1:g.2164402_2164406delinsGCAGA	GRCh37
NC_000016.8:g.2104403_2104407delinsGCAGA	NCBI36
NG_008617.1:g.26494_26498delinsTCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2618_2622delinsTCTGC MANE Select	ENSP00000262304.4:p.Val873=
ENST00000262304.8:c.2618_2622delinsTCTGC	ENSP00000262304.4:p.Val873=
ENST00000423118.5:c.2618_2622delinsTCTGC	ENSP00000399501.1:p.Val873=
ENST00000488185.2:c.472+3084_472+3088delinsTCTGC
ENST00000565639.6:n.77_81delinsTCTGC
ENST00000568591.5:c.1549_1553delinsTCTGC	ENSP00000457162.1:n.1549_1553delinsTCTGC
NM_000296.3:c.2618_2622delinsTCTGC	NP_000287.3:p.Val873=
NM_001009944.2:c.2618_2622delinsTCTGC	NP_001009944.2:p.Val873=
XM_011522525.1:c.2672_2676delinsTCTGC	XP_011520827.1:p.Val891=
XM_011522526.1:c.2672_2676delinsTCTGC	XP_011520828.1:p.Val891=
XM_011522527.1:c.2672_2676delinsTCTGC	XP_011520829.1:p.Val891=
XM_011522528.1:c.2672_2676delinsTCTGC	XP_011520830.1:p.Val891=
XM_011522529.1:c.2672_2676delinsTCTGC	XP_011520831.1:p.Val891=
XM_011522530.1:c.2618_2622delinsTCTGC	XP_011520832.1:p.Val873=
XM_011522531.1:c.2600_2604delinsTCTGC	XP_011520833.1:p.Val867=
XM_011522532.1:c.2546_2550delinsTCTGC	XP_011520834.1:p.Val849=
XM_011522533.1:c.2465_2469delinsTCTGC	XP_011520835.1:p.Val822=
XM_011522534.1:c.2408_2412delinsTCTGC	XP_011520836.1:p.Val803=
XM_011522535.1:c.494_498delinsTCTGC	XP_011520837.1:p.Val165=
XM_011522536.1:c.2672_2676delinsTCTGC	XP_011520838.1:p.Val891=
XR_932867.1:n.2687_2691delinsTCTGC
XR_932868.1:n.2687_2691delinsTCTGC
XR_932869.1:n.2687_2691delinsTCTGC
XR_932870.1:n.2687_2691delinsTCTGC
XM_005255370.3:c.-432_-428delinsTCTGC	XP_005255427.1:n.-432_-428delinsTCTGC
XM_011522528.3:c.2672_2676delinsTCTGC	XP_011520830.1:p.Val891=
XM_011522529.2:c.2672_2676delinsTCTGC	XP_011520831.1:p.Val891=
XM_024450298.1:c.2618_2622delinsTCTGC	XP_024306066.1:p.Val873=
XM_024450299.1:c.2546_2550delinsTCTGC	XP_024306067.1:p.Val849=
XM_024450300.1:c.2408_2412delinsTCTGC	XP_024306068.1:p.Val803=
XM_024450301.1:c.494_498delinsTCTGC	XP_024306069.1:p.Val165=
NM_000296.4:c.2618_2622delinsTCTGC	NP_000287.4:p.Val873=
NM_001009944.3:c.2618_2622delinsTCTGC MANE Select	NP_001009944.3:p.Val873=