Canonical Allele Identifier: CA1628583559
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51912576_51912579delinsCCTA , CM000668.2:g.51912576_51912579delinsCCTA GRCh38
NC_000006.11:g.51777374_51777377delinsCCTA , CM000668.1:g.51777374_51777377delinsCCTA GRCh37
NC_000006.10:g.51885333_51885336delinsCCTA NCBI36
NG_008753.1:g.180047_180050delinsTAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.6122-3_6122delinsTAGG
ENST00000340994.4:c.6122-3_6122delinsTAGG
ENST00000371117.7:c.6122-3_6122delinsTAGG
NM_138694.3:c.6122-3_6122delinsTAGG
NM_170724.2:c.6122-3_6122delinsTAGG
XM_011514679.1:c.6122-3_6122delinsTAGG
XM_011514680.1:c.6122-3_6122delinsTAGG
XM_011514681.1:c.6122-3_6122delinsTAGG
XM_011514682.1:c.6122-3_6122delinsTAGG
XM_011514683.1:c.5480-3_5480delinsTAGG
XM_011514684.1:c.5411-3_5411delinsTAGG
XM_011514685.1:c.6122-3_6122delinsTAGG
XM_011514686.1:c.6122-3_6122delinsTAGG
XM_011514687.1:c.6122-3_6122delinsTAGG
XM_011514688.1:c.6122-3_6122delinsTAGG
XM_011514689.1:c.6122-3_6122delinsTAGG
XM_011514690.1:c.197-3_197delinsTAGG
XM_011514691.1:c.197-3_197delinsTAGG
XM_011514680.3:c.6122-3_6122delinsTAGG
XM_011514682.3:c.6122-3_6122delinsTAGG
XM_011514683.3:c.5480-3_5480delinsTAGG
XM_011514684.3:c.5411-3_5411delinsTAGG
XM_011514686.2:c.6122-3_6122delinsTAGG
XM_011514688.2:c.6122-3_6122delinsTAGG
XM_011514690.3:c.197-3_197delinsTAGG
XM_011514691.3:c.197-3_197delinsTAGG
XM_017010944.2:c.6122-3_6122delinsTAGG
XM_017010945.2:c.6047-3_6047delinsTAGG
XM_017010946.2:c.6122-3_6122delinsTAGG
XM_017010947.2:c.5858-3_5858delinsTAGG
XM_017010948.2:c.5411-3_5411delinsTAGG
XM_017010949.2:c.4262-3_4262delinsTAGG
XM_017010950.1:c.6122-3_6122delinsTAGG
XM_017010951.1:c.6122-3_6122delinsTAGG
XM_017010952.1:c.6122-3_6122delinsTAGG
XR_001743469.1:n.6398-3_6398delinsTAGG
NM_138694.4:c.6122-3_6122delinsTAGG
NM_170724.3:c.6122-3_6122delinsTAGG