Canonical Allele Identifier: CA16041035
Gene: PKHD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371402
ClinVar RCV Id: RCV000411888
dbSNP Id: rs1057517244

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51753320del , CM000668.2:g.51753320del GRCh38
NC_000006.10:g.51726077del NCBI36
NC_000006.11:g.51618118del , CM000668.1:g.51618118del GRCh37
NG_008753.1:g.339307del

Transcript Alleles

HGVS Amino-acid change
ENST00000340994.4:c.8832del ENSP00000341097.4:p.Arg2945ValfsTer9
ENST00000371117.7:c.8832del ENSP00000360158.3:p.Arg2945ValfsTer9
NM_138694.3:c.8832del VV NP_619639.3:p.Arg2945ValfsTer9
NM_170724.2:c.8832del VV NP_733842.2:p.Arg2945ValfsTer9
XM_011514679.1:c.8832del XP_011512981.1:p.Arg2945ValfsTer9
XM_011514680.1:c.8832del XP_011512982.1:p.Arg2945ValfsTer9
XM_011514681.1:c.8703del XP_011512983.1:p.Arg2902ValfsTer9
XM_011514682.1:c.8694del XP_011512984.1:p.Arg2899ValfsTer9
XM_011514683.1:c.8190del XP_011512985.1:p.Arg2731ValfsTer9
XM_011514684.1:c.8121del XP_011512986.1:p.Arg2708ValfsTer9
XM_011514685.1:c.8832del XP_011512987.1:p.Arg2945ValfsTer9
XM_011514686.1:c.8832del XP_011512988.1:p.Arg2945ValfsTer9
XM_011514687.1:c.8832del XP_011512989.1:p.Arg2945ValfsTer9
XM_011514688.1:c.8832del XP_011512990.1:p.Arg2945ValfsTer9
XM_011514690.1:c.2907del XP_011512992.1:p.Arg970ValfsTer9
XM_011514691.1:c.2907del XP_011512993.1:p.Arg970ValfsTer9
XM_011514680.3:c.8832del
XM_011514682.3:c.8694del
XM_011514683.3:c.8190del
XM_011514684.3:c.8121del
XM_011514686.2:c.8832del
XM_011514688.2:c.8832del
XM_011514690.3:c.2907del
XM_011514691.3:c.2907del
XM_017010944.2:c.8832del XP_016866433.1:p.Arg2945ValfsTer9
XM_017010945.2:c.8757del XP_016866434.1:p.Arg2920ValfsTer9
XM_017010946.2:c.8637del XP_016866435.1:p.Arg2880ValfsTer9
XM_017010947.2:c.8568del XP_016866436.1:p.Arg2857ValfsTer9
XM_017010948.2:c.8121del XP_016866437.1:p.Arg2708ValfsTer9
XM_017010949.2:c.6972del XP_016866438.1:p.Arg2325ValfsTer9
XM_017010950.1:c.8832del XP_016866439.1:p.Arg2945ValfsTer9
XM_017010951.1:c.*1436del XP_016866440.1:p.=
XR_001743469.1:n.9108del