Canonical Allele Identifier: CA16041028
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371409
ClinVar RCV Id: RCV000411566
dbSNP Id: rs1057517249

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659927dup , CM000668.2:g.51659927dup GRCh38
NC_000006.11:g.51524725dup , CM000668.1:g.51524725dup GRCh37
NC_000006.10:g.51632684dup NCBI36
NG_008753.1:g.432699dup

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.10199dup MANE Select ENSP00000360158.3:p.Met3400IlefsTer10
ENST00000371117.7:c.10199dup ENSP00000360158.3:p.Met3400IlefsTer10
NM_138694.3:c.10199dup NP_619639.3:p.Met3400IlefsTer10
XM_011514679.1:c.10199dup XP_011512981.1:p.Met3400IlefsTer10
XM_011514680.1:c.10199dup XP_011512982.1:p.Met3400IlefsTer10
XM_011514681.1:c.10070dup XP_011512983.1:p.Met3357IlefsTer10
XM_011514682.1:c.10061dup XP_011512984.1:p.Met3354IlefsTer10
XM_011514683.1:c.9557dup XP_011512985.1:p.Met3186IlefsTer10
XM_011514684.1:c.9488dup XP_011512986.1:p.Met3163IlefsTer10
XM_011514687.1:c.10157-10707dup XP_011512989.1:n.10157-10707dup
XM_011514690.1:c.4274dup XP_011512992.1:p.Met1425IlefsTer10
XM_011514691.1:c.4274dup XP_011512993.1:p.Met1425IlefsTer10
XR_926870.1:n.535+7554dup
XR_926871.1:n.403+7554dup
XR_926872.1:n.535+7554dup
XM_011514680.3:c.10199dup XP_011512982.1:p.Met3400IlefsTer10
XM_011514682.3:c.10061dup XP_011512984.1:p.Met3354IlefsTer10
XM_011514683.3:c.9557dup XP_011512985.1:p.Met3186IlefsTer10
XM_011514684.3:c.9488dup XP_011512986.1:p.Met3163IlefsTer10
XM_011514690.3:c.4274dup XP_011512992.1:p.Met1425IlefsTer10
XM_011514691.3:c.4274dup XP_011512993.1:p.Met1425IlefsTer10
XM_017010944.2:c.10199dup XP_016866433.1:p.Met3400IlefsTer10
XM_017010945.2:c.10124dup XP_016866434.1:p.Met3375IlefsTer10
XM_017010946.2:c.10004dup XP_016866435.1:p.Met3335IlefsTer10
XM_017010947.2:c.9935dup XP_016866436.1:p.Met3312IlefsTer10
XM_017010948.2:c.9488dup XP_016866437.1:p.Met3163IlefsTer10
XM_017010949.2:c.8339dup XP_016866438.1:p.Met2780IlefsTer10
XR_001743469.1:n.10475dup
XR_001744157.1:n.3145+7554dup
XR_926870.2:n.3145+7554dup
XR_926871.2:n.3013+7554dup
XR_926872.2:n.3145+7554dup
NM_138694.4:c.10199dup MANE Select NP_619639.3:p.Met3400IlefsTer10