Canonical Allele Identifier: CA2202050339
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2115407_2115410delinsCGGA , CM000678.2:g.2115407_2115410delinsCGGA GRCh38
NC_000016.9:g.2165408_2165411delinsCGGA , CM000678.1:g.2165408_2165411delinsCGGA GRCh37
NC_000016.8:g.2105409_2105412delinsCGGA NCBI36
NG_008617.1:g.25489_25492delinsTCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.2065_2068delinsTCCG MANE Select ENSP00000262304.4:p.Ser689=
ENST00000262304.8:c.2065_2068delinsTCCG ENSP00000262304.4:p.Ser689=
ENST00000423118.5:c.2065_2068delinsTCCG ENSP00000399501.1:p.Ser689=
ENST00000488185.2:c.472+2079_472+2082delinsTCCG
ENST00000568591.5:c.996_999delinsTCCG ENSP00000457162.1:n.996_999delinsTCCG
NM_000296.3:c.2065_2068delinsTCCG NP_000287.3:p.Ser689=
NM_001009944.2:c.2065_2068delinsTCCG NP_001009944.2:p.Ser689=
XM_011522525.1:c.2119_2122delinsTCCG XP_011520827.1:p.Ser707=
XM_011522526.1:c.2119_2122delinsTCCG XP_011520828.1:p.Ser707=
XM_011522527.1:c.2119_2122delinsTCCG XP_011520829.1:p.Ser707=
XM_011522528.1:c.2119_2122delinsTCCG XP_011520830.1:p.Ser707=
XM_011522529.1:c.2119_2122delinsTCCG XP_011520831.1:p.Ser707=
XM_011522530.1:c.2065_2068delinsTCCG XP_011520832.1:p.Ser689=
XM_011522531.1:c.2047_2050delinsTCCG XP_011520833.1:p.Ser683=
XM_011522532.1:c.1993_1996delinsTCCG XP_011520834.1:p.Ser665=
XM_011522533.1:c.1912_1915delinsTCCG XP_011520835.1:p.Ser638=
XM_011522534.1:c.1855_1858delinsTCCG XP_011520836.1:p.Ser619=
XM_011522536.1:c.2119_2122delinsTCCG XP_011520838.1:p.Ser707=
XR_932867.1:n.2134_2137delinsTCCG
XR_932868.1:n.2134_2137delinsTCCG
XR_932869.1:n.2134_2137delinsTCCG
XR_932870.1:n.2134_2137delinsTCCG
XM_011522528.3:c.2119_2122delinsTCCG XP_011520830.1:p.Ser707=
XM_011522529.2:c.2119_2122delinsTCCG XP_011520831.1:p.Ser707=
XM_024450298.1:c.2065_2068delinsTCCG XP_024306066.1:p.Ser689=
XM_024450299.1:c.1993_1996delinsTCCG XP_024306067.1:p.Ser665=
XM_024450300.1:c.1855_1858delinsTCCG XP_024306068.1:p.Ser619=
NM_000296.4:c.2065_2068delinsTCCG NP_000287.4:p.Ser689=
NM_001009944.3:c.2065_2068delinsTCCG MANE Select NP_001009944.3:p.Ser689=