Canonical Allele Identifier: CA2631142023

Gene: PKD1

Linked Data

• gnomAD v4: 16-2114569-GACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114572_2114574del , CM000678.2:g.2114572_2114574del	GRCh38
NC_000016.9:g.2164573_2164575del , CM000678.1:g.2164573_2164575del	GRCh37
NC_000016.8:g.2104574_2104576del	NCBI36
NG_008617.1:g.26327_26329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2451_2453del MANE Select	ENSP00000262304.4:p.Val818del
ENST00000262304.8:c.2451_2453del	ENSP00000262304.4:p.Val818del
ENST00000423118.5:c.2451_2453del	ENSP00000399501.1:p.Val818del
ENST00000488185.2:c.472+2917_472+2919del
ENST00000568591.5:c.1382_1384del	ENSP00000457162.1:n.1382_1384del
NM_000296.3:c.2451_2453del	NP_000287.3:p.Val818del
NM_001009944.2:c.2451_2453del	NP_001009944.2:p.Val818del
XM_011522525.1:c.2505_2507del	XP_011520827.1:p.Val836del
XM_011522526.1:c.2505_2507del	XP_011520828.1:p.Val836del
XM_011522527.1:c.2505_2507del	XP_011520829.1:p.Val836del
XM_011522528.1:c.2505_2507del	XP_011520830.1:p.Val836del
XM_011522529.1:c.2505_2507del	XP_011520831.1:p.Val836del
XM_011522530.1:c.2451_2453del	XP_011520832.1:p.Val818del
XM_011522531.1:c.2433_2435del	XP_011520833.1:p.Val812del
XM_011522532.1:c.2379_2381del	XP_011520834.1:p.Val794del
XM_011522533.1:c.2298_2300del	XP_011520835.1:p.Val767del
XM_011522534.1:c.2241_2243del	XP_011520836.1:p.Val748del
XM_011522535.1:c.327_329del	XP_011520837.1:p.Val110del
XM_011522536.1:c.2505_2507del	XP_011520838.1:p.Val836del
XR_932867.1:n.2520_2522del
XR_932868.1:n.2520_2522del
XR_932869.1:n.2520_2522del
XR_932870.1:n.2520_2522del
XM_005255370.3:c.-599_-597del	XP_005255427.1:n.-599_-597del
XM_011522528.3:c.2505_2507del	XP_011520830.1:p.Val836del
XM_011522529.2:c.2505_2507del	XP_011520831.1:p.Val836del
XM_024450298.1:c.2451_2453del	XP_024306066.1:p.Val818del
XM_024450299.1:c.2379_2381del	XP_024306067.1:p.Val794del
XM_024450300.1:c.2241_2243del	XP_024306068.1:p.Val748del
XM_024450301.1:c.327_329del	XP_024306069.1:p.Val110del
NM_000296.4:c.2451_2453del	NP_000287.4:p.Val818del
NM_001009944.3:c.2451_2453del MANE Select	NP_001009944.3:p.Val818del