Canonical Allele Identifier: CA2679078631

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51748084-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748086dup , CM000668.2:g.51748086dup	GRCh38
NC_000006.11:g.51612884dup , CM000668.1:g.51612884dup	GRCh37
NC_000006.10:g.51720843dup	NCBI36
NG_008753.1:g.344541dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9531dup MANE Select	ENSP00000360158.3:p.Gly3178TrpfsTer24
ENST00000340994.4:c.9531dup	ENSP00000341097.4:p.Gly3178TrpfsTer24
ENST00000371117.7:c.9531dup	ENSP00000360158.3:p.Gly3178TrpfsTer24
NM_138694.3:c.9531dup	NP_619639.3:p.Gly3178TrpfsTer24
NM_170724.2:c.9531dup	NP_733842.2:p.Gly3178TrpfsTer24
XM_011514679.1:c.9531dup	XP_011512981.1:p.Gly3178TrpfsTer24
XM_011514680.1:c.9531dup	XP_011512982.1:p.Gly3178TrpfsTer24
XM_011514681.1:c.9402dup	XP_011512983.1:p.Gly3135TrpfsTer24
XM_011514682.1:c.9393dup	XP_011512984.1:p.Gly3132TrpfsTer24
XM_011514683.1:c.8889dup	XP_011512985.1:p.Gly2964TrpfsTer24
XM_011514684.1:c.8820dup	XP_011512986.1:p.Gly2941TrpfsTer24
XM_011514685.1:c.9531dup	XP_011512987.1:p.Gly3178TrpfsTer24
XM_011514686.1:c.9531dup	XP_011512988.1:p.Gly3178TrpfsTer24
XM_011514687.1:c.9531dup	XP_011512989.1:p.Gly3178TrpfsTer24
XM_011514688.1:c.9531dup	XP_011512990.1:p.Gly3178TrpfsTer24
XM_011514690.1:c.3606dup	XP_011512992.1:p.Gly1203TrpfsTer24
XM_011514691.1:c.3606dup	XP_011512993.1:p.Gly1203TrpfsTer24
XM_011514680.3:c.9531dup	XP_011512982.1:p.Gly3178TrpfsTer24
XM_011514682.3:c.9393dup	XP_011512984.1:p.Gly3132TrpfsTer24
XM_011514683.3:c.8889dup	XP_011512985.1:p.Gly2964TrpfsTer24
XM_011514684.3:c.8820dup	XP_011512986.1:p.Gly2941TrpfsTer24
XM_011514686.2:c.9531dup	XP_011512988.1:p.Gly3178TrpfsTer24
XM_011514688.2:c.9531dup	XP_011512990.1:p.Gly3178TrpfsTer24
XM_011514690.3:c.3606dup	XP_011512992.1:p.Gly1203TrpfsTer24
XM_011514691.3:c.3606dup	XP_011512993.1:p.Gly1203TrpfsTer24
XM_017010944.2:c.9531dup	XP_016866433.1:p.Gly3178TrpfsTer24
XM_017010945.2:c.9456dup	XP_016866434.1:p.Gly3153TrpfsTer24
XM_017010946.2:c.9336dup	XP_016866435.1:p.Gly3113TrpfsTer24
XM_017010947.2:c.9267dup	XP_016866436.1:p.Gly3090TrpfsTer24
XM_017010948.2:c.8820dup	XP_016866437.1:p.Gly2941TrpfsTer24
XM_017010949.2:c.7671dup	XP_016866438.1:p.Gly2558TrpfsTer24
XM_017010950.1:c.9531dup	XP_016866439.1:p.Gly3178TrpfsTer24
XR_001743469.1:n.9807dup
NM_138694.4:c.9531dup MANE Select	NP_619639.3:p.Gly3178TrpfsTer24
NM_170724.3:c.9531dup	NP_733842.2:p.Gly3178TrpfsTer24