Canonical Allele Identifier: CA2575879039

Gene: PKD1

Linked Data

• gnomAD v4: 16-2114446-AGCCGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114455_2114460del , CM000678.2:g.2114455_2114460del	GRCh38
NC_000016.9:g.2164456_2164461del , CM000678.1:g.2164456_2164461del	GRCh37
NC_000016.8:g.2104457_2104462del	NCBI36
NG_008617.1:g.26447_26452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2571_2576del MANE Select	ENSP00000262304.4:p.Thr858_Ala859del
ENST00000262304.8:c.2571_2576del	ENSP00000262304.4:p.Thr858_Ala859del
ENST00000423118.5:c.2571_2576del	ENSP00000399501.1:p.Thr858_Ala859del
ENST00000488185.2:c.472+3037_472+3042del
ENST00000565639.6:n.30_35del
ENST00000568591.5:c.1502_1507del	ENSP00000457162.1:n.1502_1507del
NM_000296.3:c.2571_2576del	NP_000287.3:p.Thr858_Ala859del
NM_001009944.2:c.2571_2576del	NP_001009944.2:p.Thr858_Ala859del
XM_011522525.1:c.2625_2630del	XP_011520827.1:p.Thr876_Ala877del
XM_011522526.1:c.2625_2630del	XP_011520828.1:p.Thr876_Ala877del
XM_011522527.1:c.2625_2630del	XP_011520829.1:p.Thr876_Ala877del
XM_011522528.1:c.2625_2630del	XP_011520830.1:p.Thr876_Ala877del
XM_011522529.1:c.2625_2630del	XP_011520831.1:p.Thr876_Ala877del
XM_011522530.1:c.2571_2576del	XP_011520832.1:p.Thr858_Ala859del
XM_011522531.1:c.2553_2558del	XP_011520833.1:p.Thr852_Ala853del
XM_011522532.1:c.2499_2504del	XP_011520834.1:p.Thr834_Ala835del
XM_011522533.1:c.2418_2423del	XP_011520835.1:p.Thr807_Ala808del
XM_011522534.1:c.2361_2366del	XP_011520836.1:p.Thr788_Ala789del
XM_011522535.1:c.447_452del	XP_011520837.1:p.Thr150_Ala151del
XM_011522536.1:c.2625_2630del	XP_011520838.1:p.Thr876_Ala877del
XR_932867.1:n.2640_2645del
XR_932868.1:n.2640_2645del
XR_932869.1:n.2640_2645del
XR_932870.1:n.2640_2645del
XM_005255370.3:c.-479_-474del	XP_005255427.1:n.-479_-474del
XM_011522528.3:c.2625_2630del	XP_011520830.1:p.Thr876_Ala877del
XM_011522529.2:c.2625_2630del	XP_011520831.1:p.Thr876_Ala877del
XM_024450298.1:c.2571_2576del	XP_024306066.1:p.Thr858_Ala859del
XM_024450299.1:c.2499_2504del	XP_024306067.1:p.Thr834_Ala835del
XM_024450300.1:c.2361_2366del	XP_024306068.1:p.Thr788_Ala789del
XM_024450301.1:c.447_452del	XP_024306069.1:p.Thr150_Ala151del
NM_000296.4:c.2571_2576del	NP_000287.4:p.Thr858_Ala859del
NM_001009944.3:c.2571_2576del MANE Select	NP_001009944.3:p.Thr858_Ala859del