Canonical Allele Identifier: CA2711897924

Gene: PKHD1

Linked Data

• dbSNP Id: rs2150412618

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659235_51659237del , CM000668.2:g.51659235_51659237del	GRCh38
NC_000006.11:g.51524033_51524035del , CM000668.1:g.51524033_51524035del	GRCh37
NC_000006.10:g.51631992_51631994del	NCBI36
NG_008753.1:g.433391_433393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10891_10893del MANE Select	ENSP00000360158.3:p.Tyr3631del
ENST00000371117.7:c.10891_10893del	ENSP00000360158.3:p.Tyr3631del
NM_138694.3:c.10891_10893del	NP_619639.3:p.Tyr3631del
XM_011514679.1:c.10891_10893del	XP_011512981.1:p.Tyr3631del
XM_011514680.1:c.10891_10893del	XP_011512982.1:p.Tyr3631del
XM_011514681.1:c.10762_10764del	XP_011512983.1:p.Tyr3588del
XM_011514682.1:c.10753_10755del	XP_011512984.1:p.Tyr3585del
XM_011514683.1:c.10249_10251del	XP_011512985.1:p.Tyr3417del
XM_011514684.1:c.10180_10182del	XP_011512986.1:p.Tyr3394del
XM_011514687.1:c.10157-10015_10157-10013del	XP_011512989.1:n.10157-10015_10157-10013del
XM_011514690.1:c.4966_4968del	XP_011512992.1:p.Tyr1656del
XM_011514691.1:c.4966_4968del	XP_011512993.1:p.Tyr1656del
XR_926870.1:n.535+6862_535+6864del
XR_926871.1:n.403+6862_403+6864del
XR_926872.1:n.535+6862_535+6864del
XM_011514680.3:c.10891_10893del	XP_011512982.1:p.Tyr3631del
XM_011514682.3:c.10753_10755del	XP_011512984.1:p.Tyr3585del
XM_011514683.3:c.10249_10251del	XP_011512985.1:p.Tyr3417del
XM_011514684.3:c.10180_10182del	XP_011512986.1:p.Tyr3394del
XM_011514690.3:c.4966_4968del	XP_011512992.1:p.Tyr1656del
XM_011514691.3:c.4966_4968del	XP_011512993.1:p.Tyr1656del
XM_017010944.2:c.10891_10893del	XP_016866433.1:p.Tyr3631del
XM_017010945.2:c.10816_10818del	XP_016866434.1:p.Tyr3606del
XM_017010946.2:c.10696_10698del	XP_016866435.1:p.Tyr3566del
XM_017010947.2:c.10627_10629del	XP_016866436.1:p.Tyr3543del
XM_017010948.2:c.10180_10182del	XP_016866437.1:p.Tyr3394del
XM_017010949.2:c.9031_9033del	XP_016866438.1:p.Tyr3011del
XR_001743469.1:n.11167_11169del
XR_001744157.1:n.3145+6862_3145+6864del
XR_926870.2:n.3145+6862_3145+6864del
XR_926871.2:n.3013+6862_3013+6864del
XR_926872.2:n.3145+6862_3145+6864del
NM_138694.4:c.10891_10893del MANE Select	NP_619639.3:p.Tyr3631del