Canonical Allele Identifier: CA2697553457

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2711212
• ClinVar RCV Id: RCV003503748

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659732_51659733insC , CM000668.2:g.51659732_51659733insC	GRCh38
NC_000006.11:g.51524530_51524531insC , CM000668.1:g.51524530_51524531insC	GRCh37
NC_000006.10:g.51632489_51632490insC	NCBI36
NG_008753.1:g.432893_432894insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10393_10394insG MANE Select	ENSP00000360158.3:p.Ile3465SerfsTer?
ENST00000371117.7:c.10393_10394insG	ENSP00000360158.3:p.Ile3465SerfsTer?
NM_138694.3:c.10393_10394insG	NP_619639.3:p.Ile3465SerfsTer?
XM_011514679.1:c.10393_10394insG	XP_011512981.1:p.Ile3465SerfsTer?
XM_011514680.1:c.10393_10394insG	XP_011512982.1:p.Ile3465SerfsTer?
XM_011514681.1:c.10264_10265insG	XP_011512983.1:p.Ile3422SerfsTer?
XM_011514682.1:c.10255_10256insG	XP_011512984.1:p.Ile3419SerfsTer?
XM_011514683.1:c.9751_9752insG	XP_011512985.1:p.Ile3251SerfsTer?
XM_011514684.1:c.9682_9683insG	XP_011512986.1:p.Ile3228SerfsTer?
XM_011514687.1:c.10157-10513_10157-10512insG	XP_011512989.1:n.10157-10513_10157-10512insG
XM_011514690.1:c.4468_4469insG	XP_011512992.1:p.Ile1490SerfsTer?
XM_011514691.1:c.4468_4469insG	XP_011512993.1:p.Ile1490SerfsTer?
XR_926870.1:n.535+7359_535+7360insC
XR_926871.1:n.403+7359_403+7360insC
XR_926872.1:n.535+7359_535+7360insC
XM_011514680.3:c.10393_10394insG	XP_011512982.1:p.Ile3465SerfsTer?
XM_011514682.3:c.10255_10256insG	XP_011512984.1:p.Ile3419SerfsTer?
XM_011514683.3:c.9751_9752insG	XP_011512985.1:p.Ile3251SerfsTer?
XM_011514684.3:c.9682_9683insG	XP_011512986.1:p.Ile3228SerfsTer?
XM_011514690.3:c.4468_4469insG	XP_011512992.1:p.Ile1490SerfsTer?
XM_011514691.3:c.4468_4469insG	XP_011512993.1:p.Ile1490SerfsTer?
XM_017010944.2:c.10393_10394insG	XP_016866433.1:p.Ile3465SerfsTer?
XM_017010945.2:c.10318_10319insG	XP_016866434.1:p.Ile3440SerfsTer?
XM_017010946.2:c.10198_10199insG	XP_016866435.1:p.Ile3400SerfsTer?
XM_017010947.2:c.10129_10130insG	XP_016866436.1:p.Ile3377SerfsTer?
XM_017010948.2:c.9682_9683insG	XP_016866437.1:p.Ile3228SerfsTer?
XM_017010949.2:c.8533_8534insG	XP_016866438.1:p.Ile2845SerfsTer?
XR_001743469.1:n.10669_10670insG
XR_001744157.1:n.3145+7359_3145+7360insC
XR_926870.2:n.3145+7359_3145+7360insC
XR_926871.2:n.3013+7359_3013+7360insC
XR_926872.2:n.3145+7359_3145+7360insC
NM_138694.4:c.10393_10394insG MANE Select	NP_619639.3:p.Ile3465SerfsTer?