Canonical Allele Identifier: CA1628440027

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659935_51659940delinsTTGGTA , CM000668.2:g.51659935_51659940delinsTTGGTA	GRCh38
NC_000006.11:g.51524733_51524738delinsTTGGTA , CM000668.1:g.51524733_51524738delinsTTGGTA	GRCh37
NC_000006.10:g.51632692_51632697delinsTTGGTA	NCBI36
NG_008753.1:g.432686_432691delinsTACCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10186_10191delinsTACCAA MANE Select	ENSP00000360158.3:p.Tyr3396=
ENST00000371117.7:c.10186_10191delinsTACCAA	ENSP00000360158.3:p.Tyr3396=
NM_138694.3:c.10186_10191delinsTACCAA	NP_619639.3:p.Tyr3396=
XM_011514679.1:c.10186_10191delinsTACCAA	XP_011512981.1:p.Tyr3396=
XM_011514680.1:c.10186_10191delinsTACCAA	XP_011512982.1:p.Tyr3396=
XM_011514681.1:c.10057_10062delinsTACCAA	XP_011512983.1:p.Tyr3353=
XM_011514682.1:c.10048_10053delinsTACCAA	XP_011512984.1:p.Tyr3350=
XM_011514683.1:c.9544_9549delinsTACCAA	XP_011512985.1:p.Tyr3182=
XM_011514684.1:c.9475_9480delinsTACCAA	XP_011512986.1:p.Tyr3159=
XM_011514687.1:c.10157-10720_10157-10715delinsTACCAA	XP_011512989.1:n.10157-10720_10157-10715delinsTACCAA
XM_011514690.1:c.4261_4266delinsTACCAA	XP_011512992.1:p.Tyr1421=
XM_011514691.1:c.4261_4266delinsTACCAA	XP_011512993.1:p.Tyr1421=
XR_926870.1:n.535+7562_535+7567delinsTTGGTA
XR_926871.1:n.403+7562_403+7567delinsTTGGTA
XR_926872.1:n.535+7562_535+7567delinsTTGGTA
XM_011514680.3:c.10186_10191delinsTACCAA	XP_011512982.1:p.Tyr3396=
XM_011514682.3:c.10048_10053delinsTACCAA	XP_011512984.1:p.Tyr3350=
XM_011514683.3:c.9544_9549delinsTACCAA	XP_011512985.1:p.Tyr3182=
XM_011514684.3:c.9475_9480delinsTACCAA	XP_011512986.1:p.Tyr3159=
XM_011514690.3:c.4261_4266delinsTACCAA	XP_011512992.1:p.Tyr1421=
XM_011514691.3:c.4261_4266delinsTACCAA	XP_011512993.1:p.Tyr1421=
XM_017010944.2:c.10186_10191delinsTACCAA	XP_016866433.1:p.Tyr3396=
XM_017010945.2:c.10111_10116delinsTACCAA	XP_016866434.1:p.Tyr3371=
XM_017010946.2:c.9991_9996delinsTACCAA	XP_016866435.1:p.Tyr3331=
XM_017010947.2:c.9922_9927delinsTACCAA	XP_016866436.1:p.Tyr3308=
XM_017010948.2:c.9475_9480delinsTACCAA	XP_016866437.1:p.Tyr3159=
XM_017010949.2:c.8326_8331delinsTACCAA	XP_016866438.1:p.Tyr2776=
XR_001743469.1:n.10462_10467delinsTACCAA
XR_001744157.1:n.3145+7562_3145+7567delinsTTGGTA
XR_926870.2:n.3145+7562_3145+7567delinsTTGGTA
XR_926871.2:n.3013+7562_3013+7567delinsTTGGTA
XR_926872.2:n.3145+7562_3145+7567delinsTTGGTA
NM_138694.4:c.10186_10191delinsTACCAA MANE Select	NP_619639.3:p.Tyr3396=