Canonical Allele Identifier: CA1628440119

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659992_51659993delinsCA , CM000668.2:g.51659992_51659993delinsCA	GRCh38
NC_000006.11:g.51524790_51524791delinsCA , CM000668.1:g.51524790_51524791delinsCA	GRCh37
NC_000006.10:g.51632749_51632750delinsCA	NCBI36
NG_008753.1:g.432633_432634delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10157-24_10157-23delinsTG MANE Select	ENSP00000360158.3:n.10157-24_10157-23delinsTG
ENST00000371117.7:c.10157-24_10157-23delinsTG	ENSP00000360158.3:n.10157-24_10157-23delinsTG
NM_138694.3:c.10157-24_10157-23delinsTG	NP_619639.3:n.10157-24_10157-23delinsTG
XM_011514679.1:c.10157-24_10157-23delinsTG	XP_011512981.1:n.10157-24_10157-23delinsTG
XM_011514680.1:c.10157-24_10157-23delinsTG	XP_011512982.1:n.10157-24_10157-23delinsTG
XM_011514681.1:c.10028-24_10028-23delinsTG	XP_011512983.1:n.10028-24_10028-23delinsTG
XM_011514682.1:c.10019-24_10019-23delinsTG	XP_011512984.1:n.10019-24_10019-23delinsTG
XM_011514683.1:c.9515-24_9515-23delinsTG	XP_011512985.1:n.9515-24_9515-23delinsTG
XM_011514684.1:c.9446-24_9446-23delinsTG	XP_011512986.1:n.9446-24_9446-23delinsTG
XM_011514687.1:c.10157-10773_10157-10772delinsTG	XP_011512989.1:n.10157-10773_10157-10772delinsTG
XM_011514690.1:c.4232-24_4232-23delinsTG	XP_011512992.1:n.4232-24_4232-23delinsTG
XM_011514691.1:c.4232-24_4232-23delinsTG	XP_011512993.1:n.4232-24_4232-23delinsTG
XR_926870.1:n.535+7619_535+7620delinsCA
XR_926871.1:n.403+7619_403+7620delinsCA
XR_926872.1:n.535+7619_535+7620delinsCA
XM_011514680.3:c.10157-24_10157-23delinsTG	XP_011512982.1:n.10157-24_10157-23delinsTG
XM_011514682.3:c.10019-24_10019-23delinsTG	XP_011512984.1:n.10019-24_10019-23delinsTG
XM_011514683.3:c.9515-24_9515-23delinsTG	XP_011512985.1:n.9515-24_9515-23delinsTG
XM_011514684.3:c.9446-24_9446-23delinsTG	XP_011512986.1:n.9446-24_9446-23delinsTG
XM_011514690.3:c.4232-24_4232-23delinsTG	XP_011512992.1:n.4232-24_4232-23delinsTG
XM_011514691.3:c.4232-24_4232-23delinsTG	XP_011512993.1:n.4232-24_4232-23delinsTG
XM_017010944.2:c.10157-24_10157-23delinsTG	XP_016866433.1:n.10157-24_10157-23delinsTG
XM_017010945.2:c.10082-24_10082-23delinsTG	XP_016866434.1:n.10082-24_10082-23delinsTG
XM_017010946.2:c.9962-24_9962-23delinsTG	XP_016866435.1:n.9962-24_9962-23delinsTG
XM_017010947.2:c.9893-24_9893-23delinsTG	XP_016866436.1:n.9893-24_9893-23delinsTG
XM_017010948.2:c.9446-24_9446-23delinsTG	XP_016866437.1:n.9446-24_9446-23delinsTG
XM_017010949.2:c.8297-24_8297-23delinsTG	XP_016866438.1:n.8297-24_8297-23delinsTG
XR_001743469.1:n.10433-24_10433-23delinsTG
XR_001744157.1:n.3145+7619_3145+7620delinsCA
XR_926870.2:n.3145+7619_3145+7620delinsCA
XR_926871.2:n.3013+7619_3013+7620delinsCA
XR_926872.2:n.3145+7619_3145+7620delinsCA
NM_138694.4:c.10157-24_10157-23delinsTG MANE Select	NP_619639.3:n.10157-24_10157-23delinsTG