Canonical Allele Identifier: CA1628440208

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51660065_51660066delinsTA , CM000668.2:g.51660065_51660066delinsTA	GRCh38
NC_000006.11:g.51524863_51524864delinsTA , CM000668.1:g.51524863_51524864delinsTA	GRCh37
NC_000006.10:g.51632822_51632823delinsTA	NCBI36
NG_008753.1:g.432560_432561delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10157-97_10157-96delinsTA MANE Select	ENSP00000360158.3:n.10157-97_10157-96delinsTA
ENST00000371117.7:c.10157-97_10157-96delinsTA	ENSP00000360158.3:n.10157-97_10157-96delinsTA
NM_138694.3:c.10157-97_10157-96delinsTA	NP_619639.3:n.10157-97_10157-96delinsTA
XM_011514679.1:c.10157-97_10157-96delinsTA	XP_011512981.1:n.10157-97_10157-96delinsTA
XM_011514680.1:c.10157-97_10157-96delinsTA	XP_011512982.1:n.10157-97_10157-96delinsTA
XM_011514681.1:c.10028-97_10028-96delinsTA	XP_011512983.1:n.10028-97_10028-96delinsTA
XM_011514682.1:c.10019-97_10019-96delinsTA	XP_011512984.1:n.10019-97_10019-96delinsTA
XM_011514683.1:c.9515-97_9515-96delinsTA	XP_011512985.1:n.9515-97_9515-96delinsTA
XM_011514684.1:c.9446-97_9446-96delinsTA	XP_011512986.1:n.9446-97_9446-96delinsTA
XM_011514687.1:c.10157-10846_10157-10845delinsTA	XP_011512989.1:n.10157-10846_10157-10845delinsTA
XM_011514690.1:c.4232-97_4232-96delinsTA	XP_011512992.1:n.4232-97_4232-96delinsTA
XM_011514691.1:c.4232-97_4232-96delinsTA	XP_011512993.1:n.4232-97_4232-96delinsTA
XR_926870.1:n.535+7692_535+7693delinsTA
XR_926871.1:n.403+7692_403+7693delinsTA
XR_926872.1:n.535+7692_535+7693delinsTA
XM_011514680.3:c.10157-97_10157-96delinsTA	XP_011512982.1:n.10157-97_10157-96delinsTA
XM_011514682.3:c.10019-97_10019-96delinsTA	XP_011512984.1:n.10019-97_10019-96delinsTA
XM_011514683.3:c.9515-97_9515-96delinsTA	XP_011512985.1:n.9515-97_9515-96delinsTA
XM_011514684.3:c.9446-97_9446-96delinsTA	XP_011512986.1:n.9446-97_9446-96delinsTA
XM_011514690.3:c.4232-97_4232-96delinsTA	XP_011512992.1:n.4232-97_4232-96delinsTA
XM_011514691.3:c.4232-97_4232-96delinsTA	XP_011512993.1:n.4232-97_4232-96delinsTA
XM_017010944.2:c.10157-97_10157-96delinsTA	XP_016866433.1:n.10157-97_10157-96delinsTA
XM_017010945.2:c.10082-97_10082-96delinsTA	XP_016866434.1:n.10082-97_10082-96delinsTA
XM_017010946.2:c.9962-97_9962-96delinsTA	XP_016866435.1:n.9962-97_9962-96delinsTA
XM_017010947.2:c.9893-97_9893-96delinsTA	XP_016866436.1:n.9893-97_9893-96delinsTA
XM_017010948.2:c.9446-97_9446-96delinsTA	XP_016866437.1:n.9446-97_9446-96delinsTA
XM_017010949.2:c.8297-97_8297-96delinsTA	XP_016866438.1:n.8297-97_8297-96delinsTA
XR_001743469.1:n.10433-97_10433-96delinsTA
XR_001744157.1:n.3145+7692_3145+7693delinsTA
XR_926870.2:n.3145+7692_3145+7693delinsTA
XR_926871.2:n.3013+7692_3013+7693delinsTA
XR_926872.2:n.3145+7692_3145+7693delinsTA
NM_138694.4:c.10157-97_10157-96delinsTA MANE Select	NP_619639.3:n.10157-97_10157-96delinsTA