Canonical Allele Identifier: CA1628469609

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627015_51627016delinsCT , CM000668.2:g.51627015_51627016delinsCT	GRCh38
NC_000006.11:g.51491813_51491814delinsCT , CM000668.1:g.51491813_51491814delinsCT	GRCh37
NC_000006.10:g.51599772_51599773delinsCT	NCBI36
NG_008753.1:g.465610_465611delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11766_11767delinsAG MANE Select	ENSP00000360158.3:p.Glu3922=
ENST00000371117.7:c.11766_11767delinsAG	ENSP00000360158.3:p.Glu3922=
NM_138694.3:c.11766_11767delinsAG	NP_619639.3:p.Glu3922=
XM_011514679.1:c.11766_11767delinsAG	XP_011512981.1:p.Glu3922=
XM_011514680.1:c.11766_11767delinsAG	XP_011512982.1:p.Glu3922=
XM_011514681.1:c.11637_11638delinsAG	XP_011512983.1:p.Glu3879=
XM_011514682.1:c.11628_11629delinsAG	XP_011512984.1:p.Glu3876=
XM_011514683.1:c.11124_11125delinsAG	XP_011512985.1:p.Glu3708=
XM_011514684.1:c.11055_11056delinsAG	XP_011512986.1:p.Glu3685=
XM_011514690.1:c.5841_5842delinsAG	XP_011512992.1:p.Glu1947=
XM_011514691.1:c.5841_5842delinsAG	XP_011512993.1:p.Glu1947=
XM_011514680.3:c.11766_11767delinsAG	XP_011512982.1:p.Glu3922=
XM_011514682.3:c.11628_11629delinsAG	XP_011512984.1:p.Glu3876=
XM_011514683.3:c.11124_11125delinsAG	XP_011512985.1:p.Glu3708=
XM_011514684.3:c.11055_11056delinsAG	XP_011512986.1:p.Glu3685=
XM_011514690.3:c.5841_5842delinsAG	XP_011512992.1:p.Glu1947=
XM_011514691.3:c.5841_5842delinsAG	XP_011512993.1:p.Glu1947=
XM_017010944.2:c.11766_11767delinsAG	XP_016866433.1:p.Glu3922=
XM_017010945.2:c.11691_11692delinsAG	XP_016866434.1:p.Glu3897=
XM_017010946.2:c.11571_11572delinsAG	XP_016866435.1:p.Glu3857=
XM_017010947.2:c.11502_11503delinsAG	XP_016866436.1:p.Glu3834=
XM_017010948.2:c.11055_11056delinsAG	XP_016866437.1:p.Glu3685=
XM_017010949.2:c.9906_9907delinsAG	XP_016866438.1:p.Glu3302=
NM_138694.4:c.11766_11767delinsAG MANE Select	NP_619639.3:p.Glu3922=