Canonical Allele Identifier: CA204352
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208064
ClinVar RCV Id: RCV000190326
dbSNP Id: rs796052133
MyVariant Identifiers: chr16:g.2168761del (hg19) chr16:g.2118760del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2118760del , CM000678.2:g.2118760del GRCh38
NC_000016.9:g.2168761del , CM000678.1:g.2168761del GRCh37
NC_000016.8:g.2108762del NCBI36
NG_008617.1:g.22139del

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.445del MANE Select ENSP00000262304.4:p.Gln149SerfsTer?
ENST00000262304.8:c.445del ENSP00000262304.4:p.Gln149SerfsTer?
ENST00000423118.5:c.445del ENSP00000399501.1:p.Gln149SerfsTer?
NM_000296.3:c.445del NP_000287.3:p.Gln149SerfsTer?
NM_001009944.2:c.445del NP_001009944.2:p.Gln149SerfsTer?
XM_011522525.1:c.499del XP_011520827.1:p.Gln167SerfsTer?
XM_011522526.1:c.499del XP_011520828.1:p.Gln167SerfsTer?
XM_011522527.1:c.499del XP_011520829.1:p.Gln167SerfsTer?
XM_011522528.1:c.499del XP_011520830.1:p.Gln167SerfsTer?
XM_011522529.1:c.499del XP_011520831.1:p.Gln167SerfsTer?
XM_011522530.1:c.445del XP_011520832.1:p.Gln149SerfsTer?
XM_011522531.1:c.427del XP_011520833.1:p.Gln143SerfsTer?
XM_011522532.1:c.373del XP_011520834.1:p.Gln125SerfsTer?
XM_011522533.1:c.292del XP_011520835.1:p.Gln98SerfsTer?
XM_011522534.1:c.235del XP_011520836.1:p.Gln79SerfsTer?
XM_011522536.1:c.499del XP_011520838.1:p.Gln167SerfsTer?
XR_932867.1:n.514del
XR_932868.1:n.514del
XR_932869.1:n.514del
XR_932870.1:n.514del
XM_011522528.3:c.499del XP_011520830.1:p.Gln167SerfsTer?
XM_011522529.2:c.499del XP_011520831.1:p.Gln167SerfsTer?
XM_024450298.1:c.445del XP_024306066.1:p.Gln149SerfsTer?
XM_024450299.1:c.373del XP_024306067.1:p.Gln125SerfsTer?
XM_024450300.1:c.235del XP_024306068.1:p.Gln79SerfsTer?
NM_000296.4:c.445del NP_000287.4:p.Gln149SerfsTer?
NM_001009944.3:c.445del MANE Select NP_001009944.3:p.Gln149SerfsTer?
Search 100 bp 5'
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