Canonical Allele Identifier: CA915949016

Gene: PKD1

Linked Data

• ClinVar Variation Id: 805157
• ClinVar RCV Id: RCV000992569
• dbSNP Id: rs1596575921

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114470_2114479del , CM000678.2:g.2114470_2114479del	GRCh38
NC_000016.9:g.2164471_2164480del , CM000678.1:g.2164471_2164480del	GRCh37
NC_000016.8:g.2104472_2104481del	NCBI36
NG_008617.1:g.26424_26433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2548_2557del MANE Select	ENSP00000262304.4:p.Asp850ProfsTer?
ENST00000262304.8:c.2548_2557del	ENSP00000262304.4:p.Asp850ProfsTer?
ENST00000423118.5:c.2548_2557del	ENSP00000399501.1:p.Asp850ProfsTer?
ENST00000488185.2:c.472+3014_472+3023del
ENST00000565639.6:n.7_16del
ENST00000568591.5:c.1479_1488del	ENSP00000457162.1:n.1479_1488del
NM_000296.3:c.2548_2557del	NP_000287.3:p.Asp850ProfsTer?
NM_001009944.2:c.2548_2557del	NP_001009944.2:p.Asp850ProfsTer?
XM_011522525.1:c.2602_2611del	XP_011520827.1:p.Asp868ProfsTer?
XM_011522526.1:c.2602_2611del	XP_011520828.1:p.Asp868ProfsTer?
XM_011522527.1:c.2602_2611del	XP_011520829.1:p.Asp868ProfsTer?
XM_011522528.1:c.2602_2611del	XP_011520830.1:p.Asp868ProfsTer?
XM_011522529.1:c.2602_2611del	XP_011520831.1:p.Asp868ProfsTer?
XM_011522530.1:c.2548_2557del	XP_011520832.1:p.Asp850ProfsTer?
XM_011522531.1:c.2530_2539del	XP_011520833.1:p.Asp844ProfsTer?
XM_011522532.1:c.2476_2485del	XP_011520834.1:p.Asp826ProfsTer?
XM_011522533.1:c.2395_2404del	XP_011520835.1:p.Asp799ProfsTer?
XM_011522534.1:c.2338_2347del	XP_011520836.1:p.Asp780ProfsTer?
XM_011522535.1:c.424_433del	XP_011520837.1:p.Asp142ProfsTer?
XM_011522536.1:c.2602_2611del	XP_011520838.1:p.Asp868ProfsTer?
XR_932867.1:n.2617_2626del
XR_932868.1:n.2617_2626del
XR_932869.1:n.2617_2626del
XR_932870.1:n.2617_2626del
XM_005255370.3:c.-502_-493del	XP_005255427.1:n.-502_-493del
XM_011522528.3:c.2602_2611del	XP_011520830.1:p.Asp868ProfsTer?
XM_011522529.2:c.2602_2611del	XP_011520831.1:p.Asp868ProfsTer?
XM_024450298.1:c.2548_2557del	XP_024306066.1:p.Asp850ProfsTer?
XM_024450299.1:c.2476_2485del	XP_024306067.1:p.Asp826ProfsTer?
XM_024450300.1:c.2338_2347del	XP_024306068.1:p.Asp780ProfsTer?
XM_024450301.1:c.424_433del	XP_024306069.1:p.Asp142ProfsTer?
NM_000296.4:c.2548_2557del	NP_000287.4:p.Asp850ProfsTer?
NM_001009944.3:c.2548_2557del MANE Select	NP_001009944.3:p.Asp850ProfsTer?