Canonical Allele Identifier: CA917747921

Gene: PKHD1

Linked Data

• dbSNP Id: rs1562042223

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659553_51659557del , CM000668.2:g.51659553_51659557del	GRCh38
NC_000006.11:g.51524351_51524355del , CM000668.1:g.51524351_51524355del	GRCh37
NC_000006.10:g.51632310_51632314del	NCBI36
NG_008753.1:g.433070_433074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10570_10574del MANE Select	ENSP00000360158.3:p.Ser3524IlefsTer4
ENST00000371117.7:c.10570_10574del	ENSP00000360158.3:p.Ser3524IlefsTer4
NM_138694.3:c.10570_10574del	NP_619639.3:p.Ser3524IlefsTer4
XM_011514679.1:c.10570_10574del	XP_011512981.1:p.Ser3524IlefsTer4
XM_011514680.1:c.10570_10574del	XP_011512982.1:p.Ser3524IlefsTer4
XM_011514681.1:c.10441_10445del	XP_011512983.1:p.Ser3481IlefsTer4
XM_011514682.1:c.10432_10436del	XP_011512984.1:p.Ser3478IlefsTer4
XM_011514683.1:c.9928_9932del	XP_011512985.1:p.Ser3310IlefsTer4
XM_011514684.1:c.9859_9863del	XP_011512986.1:p.Ser3287IlefsTer4
XM_011514687.1:c.10157-10336_10157-10332del	XP_011512989.1:n.10157-10336_10157-10332del
XM_011514690.1:c.4645_4649del	XP_011512992.1:p.Ser1549IlefsTer4
XM_011514691.1:c.4645_4649del	XP_011512993.1:p.Ser1549IlefsTer4
XR_926870.1:n.535+7180_535+7184del
XR_926871.1:n.403+7180_403+7184del
XR_926872.1:n.535+7180_535+7184del
XM_011514680.3:c.10570_10574del	XP_011512982.1:p.Ser3524IlefsTer4
XM_011514682.3:c.10432_10436del	XP_011512984.1:p.Ser3478IlefsTer4
XM_011514683.3:c.9928_9932del	XP_011512985.1:p.Ser3310IlefsTer4
XM_011514684.3:c.9859_9863del	XP_011512986.1:p.Ser3287IlefsTer4
XM_011514690.3:c.4645_4649del	XP_011512992.1:p.Ser1549IlefsTer4
XM_011514691.3:c.4645_4649del	XP_011512993.1:p.Ser1549IlefsTer4
XM_017010944.2:c.10570_10574del	XP_016866433.1:p.Ser3524IlefsTer4
XM_017010945.2:c.10495_10499del	XP_016866434.1:p.Ser3499IlefsTer4
XM_017010946.2:c.10375_10379del	XP_016866435.1:p.Ser3459IlefsTer4
XM_017010947.2:c.10306_10310del	XP_016866436.1:p.Ser3436IlefsTer4
XM_017010948.2:c.9859_9863del	XP_016866437.1:p.Ser3287IlefsTer4
XM_017010949.2:c.8710_8714del	XP_016866438.1:p.Ser2904IlefsTer4
XR_001743469.1:n.10846_10850del
XR_001744157.1:n.3145+7180_3145+7184del
XR_926870.2:n.3145+7180_3145+7184del
XR_926871.2:n.3013+7180_3013+7184del
XR_926872.2:n.3145+7180_3145+7184del
NM_138694.4:c.10570_10574del MANE Select	NP_619639.3:p.Ser3524IlefsTer4