Canonical Allele Identifier: CA567635978

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 929253
• ClinVar RCV Id: RCV001194456 ; RCV002497676
• dbSNP Id: rs1562040783
• gnomAD v2: 6-51524063-TGC-T
• gnomAD v4: 6-51659265-TGC-T
• MyVariant Identifiers: chr6:g.51524064_51524065del (hg19) ; chr6:g.51659266_51659267del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659268_51659269del , CM000668.2:g.51659268_51659269del	GRCh38
NC_000006.11:g.51524066_51524067del , CM000668.1:g.51524066_51524067del	GRCh37
NC_000006.10:g.51632025_51632026del	NCBI36
NG_008753.1:g.433359_433360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10859_10860del MANE Select	ENSP00000360158.3:p.Arg3620GlnfsTer9
ENST00000371117.7:c.10859_10860del	ENSP00000360158.3:p.Arg3620GlnfsTer9
NM_138694.3:c.10859_10860del	NP_619639.3:p.Arg3620GlnfsTer9
XM_011514679.1:c.10859_10860del	XP_011512981.1:p.Arg3620GlnfsTer9
XM_011514680.1:c.10859_10860del	XP_011512982.1:p.Arg3620GlnfsTer9
XM_011514681.1:c.10730_10731del	XP_011512983.1:p.Arg3577GlnfsTer9
XM_011514682.1:c.10721_10722del	XP_011512984.1:p.Arg3574GlnfsTer9
XM_011514683.1:c.10217_10218del	XP_011512985.1:p.Arg3406GlnfsTer9
XM_011514684.1:c.10148_10149del	XP_011512986.1:p.Arg3383GlnfsTer9
XM_011514687.1:c.10157-10047_10157-10046del	XP_011512989.1:n.10157-10047_10157-10046del
XM_011514690.1:c.4934_4935del	XP_011512992.1:p.Arg1645GlnfsTer9
XM_011514691.1:c.4934_4935del	XP_011512993.1:p.Arg1645GlnfsTer9
XR_926870.1:n.535+6895_535+6896del
XR_926871.1:n.403+6895_403+6896del
XR_926872.1:n.535+6895_535+6896del
XM_011514680.3:c.10859_10860del	XP_011512982.1:p.Arg3620GlnfsTer9
XM_011514682.3:c.10721_10722del	XP_011512984.1:p.Arg3574GlnfsTer9
XM_011514683.3:c.10217_10218del	XP_011512985.1:p.Arg3406GlnfsTer9
XM_011514684.3:c.10148_10149del	XP_011512986.1:p.Arg3383GlnfsTer9
XM_011514690.3:c.4934_4935del	XP_011512992.1:p.Arg1645GlnfsTer9
XM_011514691.3:c.4934_4935del	XP_011512993.1:p.Arg1645GlnfsTer9
XM_017010944.2:c.10859_10860del	XP_016866433.1:p.Arg3620GlnfsTer9
XM_017010945.2:c.10784_10785del	XP_016866434.1:p.Arg3595GlnfsTer9
XM_017010946.2:c.10664_10665del	XP_016866435.1:p.Arg3555GlnfsTer9
XM_017010947.2:c.10595_10596del	XP_016866436.1:p.Arg3532GlnfsTer9
XM_017010948.2:c.10148_10149del	XP_016866437.1:p.Arg3383GlnfsTer9
XM_017010949.2:c.8999_9000del	XP_016866438.1:p.Arg3000GlnfsTer9
XR_001743469.1:n.11135_11136del
XR_001744157.1:n.3145+6895_3145+6896del
XR_926870.2:n.3145+6895_3145+6896del
XR_926871.2:n.3013+6895_3013+6896del
XR_926872.2:n.3145+6895_3145+6896del
NM_138694.4:c.10859_10860del MANE Select	NP_619639.3:p.Arg3620GlnfsTer9