Canonical Allele Identifier: CA2559439608

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659938-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659939dup , CM000668.2:g.51659939dup	GRCh38
NC_000006.11:g.51524737dup , CM000668.1:g.51524737dup	GRCh37
NC_000006.10:g.51632696dup	NCBI36
NG_008753.1:g.432687dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10187dup MANE Select	ENSP00000360158.3:p.Tyr3396Ter
ENST00000371117.7:c.10187dup	ENSP00000360158.3:p.Tyr3396Ter
NM_138694.3:c.10187dup	NP_619639.3:p.Tyr3396Ter
XM_011514679.1:c.10187dup	XP_011512981.1:p.Tyr3396Ter
XM_011514680.1:c.10187dup	XP_011512982.1:p.Tyr3396Ter
XM_011514681.1:c.10058dup	XP_011512983.1:p.Tyr3353Ter
XM_011514682.1:c.10049dup	XP_011512984.1:p.Tyr3350Ter
XM_011514683.1:c.9545dup	XP_011512985.1:p.Tyr3182Ter
XM_011514684.1:c.9476dup	XP_011512986.1:p.Tyr3159Ter
XM_011514687.1:c.10157-10719dup	XP_011512989.1:n.10157-10719dup
XM_011514690.1:c.4262dup	XP_011512992.1:p.Tyr1421Ter
XM_011514691.1:c.4262dup	XP_011512993.1:p.Tyr1421Ter
XR_926870.1:n.535+7566dup
XR_926871.1:n.403+7566dup
XR_926872.1:n.535+7566dup
XM_011514680.3:c.10187dup	XP_011512982.1:p.Tyr3396Ter
XM_011514682.3:c.10049dup	XP_011512984.1:p.Tyr3350Ter
XM_011514683.3:c.9545dup	XP_011512985.1:p.Tyr3182Ter
XM_011514684.3:c.9476dup	XP_011512986.1:p.Tyr3159Ter
XM_011514690.3:c.4262dup	XP_011512992.1:p.Tyr1421Ter
XM_011514691.3:c.4262dup	XP_011512993.1:p.Tyr1421Ter
XM_017010944.2:c.10187dup	XP_016866433.1:p.Tyr3396Ter
XM_017010945.2:c.10112dup	XP_016866434.1:p.Tyr3371Ter
XM_017010946.2:c.9992dup	XP_016866435.1:p.Tyr3331Ter
XM_017010947.2:c.9923dup	XP_016866436.1:p.Tyr3308Ter
XM_017010948.2:c.9476dup	XP_016866437.1:p.Tyr3159Ter
XM_017010949.2:c.8327dup	XP_016866438.1:p.Tyr2776Ter
XR_001743469.1:n.10463dup
XR_001744157.1:n.3145+7566dup
XR_926870.2:n.3145+7566dup
XR_926871.2:n.3013+7566dup
XR_926872.2:n.3145+7566dup
NM_138694.4:c.10187dup MANE Select	NP_619639.3:p.Tyr3396Ter