Canonical Allele Identifier: CA567636007

Gene: PKHD1

Linked Data

• dbSNP Id: rs1379832202
• gnomAD v2: 6-51524787-AAAC-A
• gnomAD v3: 6-51659989-AAAC-A
• gnomAD v4: 6-51659989-AAAC-A
• MyVariant Identifiers: chr6:g.51524788_51524790del (hg19) ; chr6:g.51659990_51659992del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659992_51659994del , CM000668.2:g.51659992_51659994del	GRCh38
NC_000006.11:g.51524790_51524792del , CM000668.1:g.51524790_51524792del	GRCh37
NC_000006.10:g.51632749_51632751del	NCBI36
NG_008753.1:g.432634_432636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10157-23_10157-21del MANE Select	ENSP00000360158.3:n.10157-23_10157-21del
ENST00000371117.7:c.10157-23_10157-21del	ENSP00000360158.3:n.10157-23_10157-21del
NM_138694.3:c.10157-23_10157-21del	NP_619639.3:n.10157-23_10157-21del
XM_011514679.1:c.10157-23_10157-21del	XP_011512981.1:n.10157-23_10157-21del
XM_011514680.1:c.10157-23_10157-21del	XP_011512982.1:n.10157-23_10157-21del
XM_011514681.1:c.10028-23_10028-21del	XP_011512983.1:n.10028-23_10028-21del
XM_011514682.1:c.10019-23_10019-21del	XP_011512984.1:n.10019-23_10019-21del
XM_011514683.1:c.9515-23_9515-21del	XP_011512985.1:n.9515-23_9515-21del
XM_011514684.1:c.9446-23_9446-21del	XP_011512986.1:n.9446-23_9446-21del
XM_011514687.1:c.10157-10772_10157-10770del	XP_011512989.1:n.10157-10772_10157-10770del
XM_011514690.1:c.4232-23_4232-21del	XP_011512992.1:n.4232-23_4232-21del
XM_011514691.1:c.4232-23_4232-21del	XP_011512993.1:n.4232-23_4232-21del
XR_926870.1:n.535+7619_535+7621del
XR_926871.1:n.403+7619_403+7621del
XR_926872.1:n.535+7619_535+7621del
XM_011514680.3:c.10157-23_10157-21del	XP_011512982.1:n.10157-23_10157-21del
XM_011514682.3:c.10019-23_10019-21del	XP_011512984.1:n.10019-23_10019-21del
XM_011514683.3:c.9515-23_9515-21del	XP_011512985.1:n.9515-23_9515-21del
XM_011514684.3:c.9446-23_9446-21del	XP_011512986.1:n.9446-23_9446-21del
XM_011514690.3:c.4232-23_4232-21del	XP_011512992.1:n.4232-23_4232-21del
XM_011514691.3:c.4232-23_4232-21del	XP_011512993.1:n.4232-23_4232-21del
XM_017010944.2:c.10157-23_10157-21del	XP_016866433.1:n.10157-23_10157-21del
XM_017010945.2:c.10082-23_10082-21del	XP_016866434.1:n.10082-23_10082-21del
XM_017010946.2:c.9962-23_9962-21del	XP_016866435.1:n.9962-23_9962-21del
XM_017010947.2:c.9893-23_9893-21del	XP_016866436.1:n.9893-23_9893-21del
XM_017010948.2:c.9446-23_9446-21del	XP_016866437.1:n.9446-23_9446-21del
XM_017010949.2:c.8297-23_8297-21del	XP_016866438.1:n.8297-23_8297-21del
XR_001743469.1:n.10433-23_10433-21del
XR_001744157.1:n.3145+7619_3145+7621del
XR_926870.2:n.3145+7619_3145+7621del
XR_926871.2:n.3013+7619_3013+7621del
XR_926872.2:n.3145+7619_3145+7621del
NM_138694.4:c.10157-23_10157-21del MANE Select	NP_619639.3:n.10157-23_10157-21del