Canonical Allele Identifier: CA1628438786

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659273_51659274delinsCT , CM000668.2:g.51659273_51659274delinsCT	GRCh38
NC_000006.11:g.51524071_51524072delinsCT , CM000668.1:g.51524071_51524072delinsCT	GRCh37
NC_000006.10:g.51632030_51632031delinsCT	NCBI36
NG_008753.1:g.433352_433353delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10852_10853delinsAG MANE Select	ENSP00000360158.3:p.Arg3618=
ENST00000371117.7:c.10852_10853delinsAG	ENSP00000360158.3:p.Arg3618=
NM_138694.3:c.10852_10853delinsAG	NP_619639.3:p.Arg3618=
XM_011514679.1:c.10852_10853delinsAG	XP_011512981.1:p.Arg3618=
XM_011514680.1:c.10852_10853delinsAG	XP_011512982.1:p.Arg3618=
XM_011514681.1:c.10723_10724delinsAG	XP_011512983.1:p.Arg3575=
XM_011514682.1:c.10714_10715delinsAG	XP_011512984.1:p.Arg3572=
XM_011514683.1:c.10210_10211delinsAG	XP_011512985.1:p.Arg3404=
XM_011514684.1:c.10141_10142delinsAG	XP_011512986.1:p.Arg3381=
XM_011514687.1:c.10157-10054_10157-10053delinsAG	XP_011512989.1:n.10157-10054_10157-10053delinsAG
XM_011514690.1:c.4927_4928delinsAG	XP_011512992.1:p.Arg1643=
XM_011514691.1:c.4927_4928delinsAG	XP_011512993.1:p.Arg1643=
XR_926870.1:n.535+6900_535+6901delinsCT
XR_926871.1:n.403+6900_403+6901delinsCT
XR_926872.1:n.535+6900_535+6901delinsCT
XM_011514680.3:c.10852_10853delinsAG	XP_011512982.1:p.Arg3618=
XM_011514682.3:c.10714_10715delinsAG	XP_011512984.1:p.Arg3572=
XM_011514683.3:c.10210_10211delinsAG	XP_011512985.1:p.Arg3404=
XM_011514684.3:c.10141_10142delinsAG	XP_011512986.1:p.Arg3381=
XM_011514690.3:c.4927_4928delinsAG	XP_011512992.1:p.Arg1643=
XM_011514691.3:c.4927_4928delinsAG	XP_011512993.1:p.Arg1643=
XM_017010944.2:c.10852_10853delinsAG	XP_016866433.1:p.Arg3618=
XM_017010945.2:c.10777_10778delinsAG	XP_016866434.1:p.Arg3593=
XM_017010946.2:c.10657_10658delinsAG	XP_016866435.1:p.Arg3553=
XM_017010947.2:c.10588_10589delinsAG	XP_016866436.1:p.Arg3530=
XM_017010948.2:c.10141_10142delinsAG	XP_016866437.1:p.Arg3381=
XM_017010949.2:c.8992_8993delinsAG	XP_016866438.1:p.Arg2998=
XR_001743469.1:n.11128_11129delinsAG
XR_001744157.1:n.3145+6900_3145+6901delinsCT
XR_926870.2:n.3145+6900_3145+6901delinsCT
XR_926871.2:n.3013+6900_3013+6901delinsCT
XR_926872.2:n.3145+6900_3145+6901delinsCT
NM_138694.4:c.10852_10853delinsAG MANE Select	NP_619639.3:p.Arg3618=