Canonical Allele Identifier: CA16041021
Gene: PKHD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371506
ClinVar RCV Id: RCV000412407
dbSNP Id: rs1057517324

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51627007del , CM000668.2:g.51627007del GRCh38
NC_000006.11:g.51491805del , CM000668.1:g.51491805del GRCh37
NC_000006.10:g.51599764del NCBI36
NG_008753.1:g.465620del

Transcript Alleles

HGVS Amino-acid change
NM_138694.3:c.11776del VV NP_619639.3:p.Val3926TrpfsTer5
XM_011514679.1:c.11776del XP_011512981.1:p.Val3926TrpfsTer5
XM_011514680.1:c.11776del XP_011512982.1:p.Val3926TrpfsTer5
XM_011514681.1:c.11647del XP_011512983.1:p.Val3883TrpfsTer5
XM_011514682.1:c.11638del XP_011512984.1:p.Val3880TrpfsTer5
XM_011514683.1:c.11134del XP_011512985.1:p.Val3712TrpfsTer5
XM_011514684.1:c.11065del XP_011512986.1:p.Val3689TrpfsTer5
XM_011514690.1:c.5851del XP_011512992.1:p.Val1951TrpfsTer5
XM_011514691.1:c.5851del XP_011512993.1:p.Val1951TrpfsTer5
XM_011514680.3:c.11776del XP_011512982.1:p.Val3926TrpfsTer5
XM_011514682.3:c.11638del XP_011512984.1:p.Val3880TrpfsTer5
XM_011514683.3:c.11134del XP_011512985.1:p.Val3712TrpfsTer5
XM_011514684.3:c.11065del XP_011512986.1:p.Val3689TrpfsTer5
XM_011514690.3:c.5851del XP_011512992.1:p.Val1951TrpfsTer5
XM_011514691.3:c.5851del XP_011512993.1:p.Val1951TrpfsTer5
XM_017010944.2:c.11776del XP_016866433.1:p.Val3926TrpfsTer5
XM_017010945.2:c.11701del XP_016866434.1:p.Val3901TrpfsTer5
XM_017010946.2:c.11581del XP_016866435.1:p.Val3861TrpfsTer5
XM_017010947.2:c.11512del XP_016866436.1:p.Val3838TrpfsTer5
XM_017010948.2:c.11065del XP_016866437.1:p.Val3689TrpfsTer5
XM_017010949.2:c.9916del XP_016866438.1:p.Val3306TrpfsTer5
ENST00000371117.7:c.11776del ENSP00000360158.3:p.Val3926TrpfsTer5