Canonical Allele Identifier: CA16041027
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370876
ClinVar RCV Id: RCV000410302
dbSNP Id: rs1057516835

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659709del , CM000668.2:g.51659709del GRCh38
NC_000006.11:g.51524507del , CM000668.1:g.51524507del GRCh37
NC_000006.10:g.51632466del NCBI36
NG_008753.1:g.432918del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.10418del MANE Select ENSP00000360158.3:p.Phe3473SerfsTer?
ENST00000371117.7:c.10418del ENSP00000360158.3:p.Phe3473SerfsTer?
NM_138694.3:c.10418del NP_619639.3:p.Phe3473SerfsTer?
XM_011514679.1:c.10418del XP_011512981.1:p.Phe3473SerfsTer?
XM_011514680.1:c.10418del XP_011512982.1:p.Phe3473SerfsTer?
XM_011514681.1:c.10289del XP_011512983.1:p.Phe3430SerfsTer?
XM_011514682.1:c.10280del XP_011512984.1:p.Phe3427SerfsTer?
XM_011514683.1:c.9776del XP_011512985.1:p.Phe3259SerfsTer?
XM_011514684.1:c.9707del XP_011512986.1:p.Phe3236SerfsTer?
XM_011514687.1:c.10157-10488del XP_011512989.1:n.10157-10488del
XM_011514690.1:c.4493del XP_011512992.1:p.Phe1498SerfsTer?
XM_011514691.1:c.4493del XP_011512993.1:p.Phe1498SerfsTer?
XR_926870.1:n.535+7336del
XR_926871.1:n.403+7336del
XR_926872.1:n.535+7336del
XM_011514680.3:c.10418del XP_011512982.1:p.Phe3473SerfsTer?
XM_011514682.3:c.10280del XP_011512984.1:p.Phe3427SerfsTer?
XM_011514683.3:c.9776del XP_011512985.1:p.Phe3259SerfsTer?
XM_011514684.3:c.9707del XP_011512986.1:p.Phe3236SerfsTer?
XM_011514690.3:c.4493del XP_011512992.1:p.Phe1498SerfsTer?
XM_011514691.3:c.4493del XP_011512993.1:p.Phe1498SerfsTer?
XM_017010944.2:c.10418del XP_016866433.1:p.Phe3473SerfsTer?
XM_017010945.2:c.10343del XP_016866434.1:p.Phe3448SerfsTer?
XM_017010946.2:c.10223del XP_016866435.1:p.Phe3408SerfsTer?
XM_017010947.2:c.10154del XP_016866436.1:p.Phe3385SerfsTer?
XM_017010948.2:c.9707del XP_016866437.1:p.Phe3236SerfsTer?
XM_017010949.2:c.8558del XP_016866438.1:p.Phe2853SerfsTer?
XR_001743469.1:n.10694del
XR_001744157.1:n.3145+7336del
XR_926870.2:n.3145+7336del
XR_926871.2:n.3013+7336del
XR_926872.2:n.3145+7336del
NM_138694.4:c.10418del MANE Select NP_619639.3:p.Phe3473SerfsTer?