Canonical Allele Identifier: CA274359

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 189084
• ClinVar RCV Id: RCV000169490 ; RCV002492694
• dbSNP Id: rs771623148
• ExAC: 6:51524471 G / GA
• gnomAD v2: 6-51524471-G-GA
• gnomAD v3: 6-51659673-G-GA
• gnomAD v4: 6-51659673-G-GA
• COSMIC: COSM4611318
• MyVariant Identifiers: chr6:g.51524472dup (hg19) ; chr6:g.51524472dupA (hg19) ; chr6:g.51524472_51524473insA (hg19) ; chr6:g.51524471_51524472insA (hg19) ; chr6:g.51659674dupA (hg38) ; chr6:g.51659674_51659675insA (hg38) ; chr6:g.51659673_51659674insA (hg38)
• PubMed: PMID:15108281 ; PMID:19914852

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659679dup , CM000668.2:g.51659679dup	GRCh38
NC_000006.11:g.51524477dup , CM000668.1:g.51524477dup	GRCh37
NC_000006.10:g.51632436dup	NCBI36
NG_008753.1:g.432952dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10452dup MANE Select	ENSP00000360158.3:p.Leu3485SerfsTer18
ENST00000371117.7:c.10452dup	ENSP00000360158.3:p.Leu3485SerfsTer18
NM_138694.3:c.10452dup	NP_619639.3:p.Leu3485SerfsTer18
XM_011514679.1:c.10452dup	XP_011512981.1:p.Leu3485SerfsTer18
XM_011514680.1:c.10452dup	XP_011512982.1:p.Leu3485SerfsTer18
XM_011514681.1:c.10323dup	XP_011512983.1:p.Leu3442SerfsTer18
XM_011514682.1:c.10314dup	XP_011512984.1:p.Leu3439SerfsTer18
XM_011514683.1:c.9810dup	XP_011512985.1:p.Leu3271SerfsTer18
XM_011514684.1:c.9741dup	XP_011512986.1:p.Leu3248SerfsTer18
XM_011514687.1:c.10157-10454dup	XP_011512989.1:n.10157-10454dup
XM_011514690.1:c.4527dup	XP_011512992.1:p.Leu1510SerfsTer18
XM_011514691.1:c.4527dup	XP_011512993.1:p.Leu1510SerfsTer18
XR_926870.1:n.535+7306dup
XR_926871.1:n.403+7306dup
XR_926872.1:n.535+7306dup
XM_011514680.3:c.10452dup	XP_011512982.1:p.Leu3485SerfsTer18
XM_011514682.3:c.10314dup	XP_011512984.1:p.Leu3439SerfsTer18
XM_011514683.3:c.9810dup	XP_011512985.1:p.Leu3271SerfsTer18
XM_011514684.3:c.9741dup	XP_011512986.1:p.Leu3248SerfsTer18
XM_011514690.3:c.4527dup	XP_011512992.1:p.Leu1510SerfsTer18
XM_011514691.3:c.4527dup	XP_011512993.1:p.Leu1510SerfsTer18
XM_017010944.2:c.10452dup	XP_016866433.1:p.Leu3485SerfsTer18
XM_017010945.2:c.10377dup	XP_016866434.1:p.Leu3460SerfsTer18
XM_017010946.2:c.10257dup	XP_016866435.1:p.Leu3420SerfsTer18
XM_017010947.2:c.10188dup	XP_016866436.1:p.Leu3397SerfsTer18
XM_017010948.2:c.9741dup	XP_016866437.1:p.Leu3248SerfsTer18
XM_017010949.2:c.8592dup	XP_016866438.1:p.Leu2865SerfsTer18
XR_001743469.1:n.10728dup
XR_001744157.1:n.3145+7306dup
XR_926870.2:n.3145+7306dup
XR_926871.2:n.3013+7306dup
XR_926872.2:n.3145+7306dup
NM_138694.4:c.10452dup MANE Select	NP_619639.3:p.Leu3485SerfsTer18