Canonical Allele Identifier: CA2580091017

Gene: PKD1

Linked Data

• ClinVar Variation Id: 1801930
• ClinVar RCV Id: RCV002464749
• gnomAD v4: 16-2115413-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2115416_2115418del , CM000678.2:g.2115416_2115418del	GRCh38
NC_000016.9:g.2165417_2165419del , CM000678.1:g.2165417_2165419del	GRCh37
NC_000016.8:g.2105418_2105420del	NCBI36
NG_008617.1:g.25483_25485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2059_2061del MANE Select	ENSP00000262304.4:p.Leu687del
ENST00000262304.8:c.2059_2061del	ENSP00000262304.4:p.Leu687del
ENST00000423118.5:c.2059_2061del	ENSP00000399501.1:p.Leu687del
ENST00000488185.2:c.472+2073_472+2075del
ENST00000568591.5:c.990_992del	ENSP00000457162.1:n.990_992del
NM_000296.3:c.2059_2061del	NP_000287.3:p.Leu687del
NM_001009944.2:c.2059_2061del	NP_001009944.2:p.Leu687del
XM_011522525.1:c.2113_2115del	XP_011520827.1:p.Leu705del
XM_011522526.1:c.2113_2115del	XP_011520828.1:p.Leu705del
XM_011522527.1:c.2113_2115del	XP_011520829.1:p.Leu705del
XM_011522528.1:c.2113_2115del	XP_011520830.1:p.Leu705del
XM_011522529.1:c.2113_2115del	XP_011520831.1:p.Leu705del
XM_011522530.1:c.2059_2061del	XP_011520832.1:p.Leu687del
XM_011522531.1:c.2041_2043del	XP_011520833.1:p.Leu681del
XM_011522532.1:c.1987_1989del	XP_011520834.1:p.Leu663del
XM_011522533.1:c.1906_1908del	XP_011520835.1:p.Leu636del
XM_011522534.1:c.1849_1851del	XP_011520836.1:p.Leu617del
XM_011522536.1:c.2113_2115del	XP_011520838.1:p.Leu705del
XR_932867.1:n.2128_2130del
XR_932868.1:n.2128_2130del
XR_932869.1:n.2128_2130del
XR_932870.1:n.2128_2130del
XM_011522528.3:c.2113_2115del	XP_011520830.1:p.Leu705del
XM_011522529.2:c.2113_2115del	XP_011520831.1:p.Leu705del
XM_024450298.1:c.2059_2061del	XP_024306066.1:p.Leu687del
XM_024450299.1:c.1987_1989del	XP_024306067.1:p.Leu663del
XM_024450300.1:c.1849_1851del	XP_024306068.1:p.Leu617del
NM_000296.4:c.2059_2061del	NP_000287.4:p.Leu687del
NM_001009944.3:c.2059_2061del MANE Select	NP_001009944.3:p.Leu687del