Canonical Allele Identifier: CA16041024
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370644
ClinVar RCV Id: RCV000409127
dbSNP Id: rs1057516652

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659302del , CM000668.2:g.51659302del GRCh38
NC_000006.11:g.51524100del , CM000668.1:g.51524100del GRCh37
NC_000006.10:g.51632059del NCBI36
NG_008753.1:g.433326del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.10826del MANE Select ENSP00000360158.3:p.Lys3609ArgfsTer17
ENST00000371117.7:c.10826del ENSP00000360158.3:p.Lys3609ArgfsTer17
NM_138694.3:c.10826del NP_619639.3:p.Lys3609ArgfsTer17
XM_011514679.1:c.10826del XP_011512981.1:p.Lys3609ArgfsTer17
XM_011514680.1:c.10826del XP_011512982.1:p.Lys3609ArgfsTer17
XM_011514681.1:c.10697del XP_011512983.1:p.Lys3566ArgfsTer17
XM_011514682.1:c.10688del XP_011512984.1:p.Lys3563ArgfsTer17
XM_011514683.1:c.10184del XP_011512985.1:p.Lys3395ArgfsTer17
XM_011514684.1:c.10115del XP_011512986.1:p.Lys3372ArgfsTer17
XM_011514687.1:c.10157-10080del XP_011512989.1:n.10157-10080del
XM_011514690.1:c.4901del XP_011512992.1:p.Lys1634ArgfsTer17
XM_011514691.1:c.4901del XP_011512993.1:p.Lys1634ArgfsTer17
XR_926870.1:n.535+6929del
XR_926871.1:n.403+6929del
XR_926872.1:n.535+6929del
XM_011514680.3:c.10826del XP_011512982.1:p.Lys3609ArgfsTer17
XM_011514682.3:c.10688del XP_011512984.1:p.Lys3563ArgfsTer17
XM_011514683.3:c.10184del XP_011512985.1:p.Lys3395ArgfsTer17
XM_011514684.3:c.10115del XP_011512986.1:p.Lys3372ArgfsTer17
XM_011514690.3:c.4901del XP_011512992.1:p.Lys1634ArgfsTer17
XM_011514691.3:c.4901del XP_011512993.1:p.Lys1634ArgfsTer17
XM_017010944.2:c.10826del XP_016866433.1:p.Lys3609ArgfsTer17
XM_017010945.2:c.10751del XP_016866434.1:p.Lys3584ArgfsTer17
XM_017010946.2:c.10631del XP_016866435.1:p.Lys3544ArgfsTer17
XM_017010947.2:c.10562del XP_016866436.1:p.Lys3521ArgfsTer17
XM_017010948.2:c.10115del XP_016866437.1:p.Lys3372ArgfsTer17
XM_017010949.2:c.8966del XP_016866438.1:p.Lys2989ArgfsTer17
XR_001743469.1:n.11102del
XR_001744157.1:n.3145+6929del
XR_926870.2:n.3145+6929del
XR_926871.2:n.3013+6929del
XR_926872.2:n.3145+6929del
NM_138694.4:c.10826del MANE Select NP_619639.3:p.Lys3609ArgfsTer17