Canonical Allele Identifier: CA1628469594

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627010_51627013delinsAGTG , CM000668.2:g.51627010_51627013delinsAGTG	GRCh38
NC_000006.11:g.51491808_51491811delinsAGTG , CM000668.1:g.51491808_51491811delinsAGTG	GRCh37
NC_000006.10:g.51599767_51599770delinsAGTG	NCBI36
NG_008753.1:g.465613_465616delinsCACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11769_11772delinsCACT MANE Select	ENSP00000360158.3:p.Asp3923=
ENST00000371117.7:c.11769_11772delinsCACT	ENSP00000360158.3:p.Asp3923=
NM_138694.3:c.11769_11772delinsCACT	NP_619639.3:p.Asp3923=
XM_011514679.1:c.11769_11772delinsCACT	XP_011512981.1:p.Asp3923=
XM_011514680.1:c.11769_11772delinsCACT	XP_011512982.1:p.Asp3923=
XM_011514681.1:c.11640_11643delinsCACT	XP_011512983.1:p.Asp3880=
XM_011514682.1:c.11631_11634delinsCACT	XP_011512984.1:p.Asp3877=
XM_011514683.1:c.11127_11130delinsCACT	XP_011512985.1:p.Asp3709=
XM_011514684.1:c.11058_11061delinsCACT	XP_011512986.1:p.Asp3686=
XM_011514690.1:c.5844_5847delinsCACT	XP_011512992.1:p.Asp1948=
XM_011514691.1:c.5844_5847delinsCACT	XP_011512993.1:p.Asp1948=
XM_011514680.3:c.11769_11772delinsCACT	XP_011512982.1:p.Asp3923=
XM_011514682.3:c.11631_11634delinsCACT	XP_011512984.1:p.Asp3877=
XM_011514683.3:c.11127_11130delinsCACT	XP_011512985.1:p.Asp3709=
XM_011514684.3:c.11058_11061delinsCACT	XP_011512986.1:p.Asp3686=
XM_011514690.3:c.5844_5847delinsCACT	XP_011512992.1:p.Asp1948=
XM_011514691.3:c.5844_5847delinsCACT	XP_011512993.1:p.Asp1948=
XM_017010944.2:c.11769_11772delinsCACT	XP_016866433.1:p.Asp3923=
XM_017010945.2:c.11694_11697delinsCACT	XP_016866434.1:p.Asp3898=
XM_017010946.2:c.11574_11577delinsCACT	XP_016866435.1:p.Asp3858=
XM_017010947.2:c.11505_11508delinsCACT	XP_016866436.1:p.Asp3835=
XM_017010948.2:c.11058_11061delinsCACT	XP_016866437.1:p.Asp3686=
XM_017010949.2:c.9909_9912delinsCACT	XP_016866438.1:p.Asp3303=
NM_138694.4:c.11769_11772delinsCACT MANE Select	NP_619639.3:p.Asp3923=