Canonical Allele Identifier: CA2679076984

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2830141
• ClinVar RCV Id: RCV003612936
• gnomAD v4: 6-51659980-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659984_51659986del , CM000668.2:g.51659984_51659986del	GRCh38
NC_000006.11:g.51524782_51524784del , CM000668.1:g.51524782_51524784del	GRCh37
NC_000006.10:g.51632741_51632743del	NCBI36
NG_008753.1:g.432643_432645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10157-14_10157-12del MANE Select	ENSP00000360158.3:n.10157-14_10157-12del
ENST00000371117.7:c.10157-14_10157-12del	ENSP00000360158.3:n.10157-14_10157-12del
NM_138694.3:c.10157-14_10157-12del	NP_619639.3:n.10157-14_10157-12del
XM_011514679.1:c.10157-14_10157-12del	XP_011512981.1:n.10157-14_10157-12del
XM_011514680.1:c.10157-14_10157-12del	XP_011512982.1:n.10157-14_10157-12del
XM_011514681.1:c.10028-14_10028-12del	XP_011512983.1:n.10028-14_10028-12del
XM_011514682.1:c.10019-14_10019-12del	XP_011512984.1:n.10019-14_10019-12del
XM_011514683.1:c.9515-14_9515-12del	XP_011512985.1:n.9515-14_9515-12del
XM_011514684.1:c.9446-14_9446-12del	XP_011512986.1:n.9446-14_9446-12del
XM_011514687.1:c.10157-10763_10157-10761del	XP_011512989.1:n.10157-10763_10157-10761del
XM_011514690.1:c.4232-14_4232-12del	XP_011512992.1:n.4232-14_4232-12del
XM_011514691.1:c.4232-14_4232-12del	XP_011512993.1:n.4232-14_4232-12del
XR_926870.1:n.535+7611_535+7613del
XR_926871.1:n.403+7611_403+7613del
XR_926872.1:n.535+7611_535+7613del
XM_011514680.3:c.10157-14_10157-12del	XP_011512982.1:n.10157-14_10157-12del
XM_011514682.3:c.10019-14_10019-12del	XP_011512984.1:n.10019-14_10019-12del
XM_011514683.3:c.9515-14_9515-12del	XP_011512985.1:n.9515-14_9515-12del
XM_011514684.3:c.9446-14_9446-12del	XP_011512986.1:n.9446-14_9446-12del
XM_011514690.3:c.4232-14_4232-12del	XP_011512992.1:n.4232-14_4232-12del
XM_011514691.3:c.4232-14_4232-12del	XP_011512993.1:n.4232-14_4232-12del
XM_017010944.2:c.10157-14_10157-12del	XP_016866433.1:n.10157-14_10157-12del
XM_017010945.2:c.10082-14_10082-12del	XP_016866434.1:n.10082-14_10082-12del
XM_017010946.2:c.9962-14_9962-12del	XP_016866435.1:n.9962-14_9962-12del
XM_017010947.2:c.9893-14_9893-12del	XP_016866436.1:n.9893-14_9893-12del
XM_017010948.2:c.9446-14_9446-12del	XP_016866437.1:n.9446-14_9446-12del
XM_017010949.2:c.8297-14_8297-12del	XP_016866438.1:n.8297-14_8297-12del
XR_001743469.1:n.10433-14_10433-12del
XR_001744157.1:n.3145+7611_3145+7613del
XR_926870.2:n.3145+7611_3145+7613del
XR_926871.2:n.3013+7611_3013+7613del
XR_926872.2:n.3145+7611_3145+7613del
NM_138694.4:c.10157-14_10157-12del MANE Select	NP_619639.3:n.10157-14_10157-12del