Canonical Allele Identifier: CA2695222581

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2115410del , CM000678.2:g.2115410del	GRCh38
NC_000016.9:g.2165411del , CM000678.1:g.2165411del	GRCh37
NC_000016.8:g.2105412del	NCBI36
NG_008617.1:g.25489del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.2065del MANE Select	ENSP00000262304.4:p.Ser689ProfsTer?
ENST00000262304.8:c.2065del	ENSP00000262304.4:p.Ser689ProfsTer?
ENST00000423118.5:c.2065del	ENSP00000399501.1:p.Ser689ProfsTer?
ENST00000488185.2:c.472+2079del
ENST00000568591.5:c.996del	ENSP00000457162.1:n.996del
NM_000296.3:c.2065del	NP_000287.3:p.Ser689ProfsTer?
NM_001009944.2:c.2065del	NP_001009944.2:p.Ser689ProfsTer?
XM_011522525.1:c.2119del	XP_011520827.1:p.Ser707ProfsTer?
XM_011522526.1:c.2119del	XP_011520828.1:p.Ser707ProfsTer?
XM_011522527.1:c.2119del	XP_011520829.1:p.Ser707ProfsTer?
XM_011522528.1:c.2119del	XP_011520830.1:p.Ser707ProfsTer?
XM_011522529.1:c.2119del	XP_011520831.1:p.Ser707ProfsTer?
XM_011522530.1:c.2065del	XP_011520832.1:p.Ser689ProfsTer?
XM_011522531.1:c.2047del	XP_011520833.1:p.Ser683ProfsTer?
XM_011522532.1:c.1993del	XP_011520834.1:p.Ser665ProfsTer?
XM_011522533.1:c.1912del	XP_011520835.1:p.Ser638ProfsTer?
XM_011522534.1:c.1855del	XP_011520836.1:p.Ser619ProfsTer?
XM_011522536.1:c.2119del	XP_011520838.1:p.Ser707ProfsTer?
XR_932867.1:n.2134del
XR_932868.1:n.2134del
XR_932869.1:n.2134del
XR_932870.1:n.2134del
XM_011522528.3:c.2119del	XP_011520830.1:p.Ser707ProfsTer?
XM_011522529.2:c.2119del	XP_011520831.1:p.Ser707ProfsTer?
XM_024450298.1:c.2065del	XP_024306066.1:p.Ser689ProfsTer?
XM_024450299.1:c.1993del	XP_024306067.1:p.Ser665ProfsTer?
XM_024450300.1:c.1855del	XP_024306068.1:p.Ser619ProfsTer?
NM_000296.4:c.2065del	NP_000287.4:p.Ser689ProfsTer?
NM_001009944.3:c.2065del MANE Select	NP_001009944.3:p.Ser689ProfsTer?