Canonical Allele Identifier: CA2578644499

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659057-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659059del , CM000668.2:g.51659059del	GRCh38
NC_000006.11:g.51523857del , CM000668.1:g.51523857del	GRCh37
NC_000006.10:g.51631816del	NCBI36
NG_008753.1:g.433568del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11068del MANE Select	ENSP00000360158.3:p.Ala3690LeufsTer13
ENST00000371117.7:c.11068del	ENSP00000360158.3:p.Ala3690LeufsTer13
NM_138694.3:c.11068del	NP_619639.3:p.Ala3690LeufsTer13
XM_011514679.1:c.11068del	XP_011512981.1:p.Ala3690LeufsTer13
XM_011514680.1:c.11068del	XP_011512982.1:p.Ala3690LeufsTer13
XM_011514681.1:c.10939del	XP_011512983.1:p.Ala3647LeufsTer13
XM_011514682.1:c.10930del	XP_011512984.1:p.Ala3644LeufsTer13
XM_011514683.1:c.10426del	XP_011512985.1:p.Ala3476LeufsTer13
XM_011514684.1:c.10357del	XP_011512986.1:p.Ala3453LeufsTer13
XM_011514687.1:c.10157-9838del	XP_011512989.1:n.10157-9838del
XM_011514690.1:c.5143del	XP_011512992.1:p.Ala1715LeufsTer13
XM_011514691.1:c.5143del	XP_011512993.1:p.Ala1715LeufsTer13
XR_926870.1:n.535+6686del
XR_926871.1:n.403+6686del
XR_926872.1:n.535+6686del
XM_011514680.3:c.11068del	XP_011512982.1:p.Ala3690LeufsTer13
XM_011514682.3:c.10930del	XP_011512984.1:p.Ala3644LeufsTer13
XM_011514683.3:c.10426del	XP_011512985.1:p.Ala3476LeufsTer13
XM_011514684.3:c.10357del	XP_011512986.1:p.Ala3453LeufsTer13
XM_011514690.3:c.5143del	XP_011512992.1:p.Ala1715LeufsTer13
XM_011514691.3:c.5143del	XP_011512993.1:p.Ala1715LeufsTer13
XM_017010944.2:c.11068del	XP_016866433.1:p.Ala3690LeufsTer13
XM_017010945.2:c.10993del	XP_016866434.1:p.Ala3665LeufsTer13
XM_017010946.2:c.10873del	XP_016866435.1:p.Ala3625LeufsTer13
XM_017010947.2:c.10804del	XP_016866436.1:p.Ala3602LeufsTer13
XM_017010948.2:c.10357del	XP_016866437.1:p.Ala3453LeufsTer13
XM_017010949.2:c.9208del	XP_016866438.1:p.Ala3070LeufsTer13
XR_001743469.1:n.11344del
XR_001744157.1:n.3145+6686del
XR_926870.2:n.3145+6686del
XR_926871.2:n.3013+6686del
XR_926872.2:n.3145+6686del
NM_138694.4:c.11068del MANE Select	NP_619639.3:p.Ala3690LeufsTer13