Canonical Allele Identifier: CA138897007

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 633361
• ClinVar RCV Id: RCV000781730 ; RCV003467315
• dbSNP Id: rs765390756
• gnomAD v2: 6-51523968-TG-T
• gnomAD v4: 6-51659170-TG-T
• COSMIC: COSM5686208
• MyVariant Identifiers: chr6:g.51523969del (hg19) ; chr6:g.51659171del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659175del , CM000668.2:g.51659175del	GRCh38
NC_000006.11:g.51523973del , CM000668.1:g.51523973del	GRCh37
NC_000006.10:g.51631932del	NCBI36
NG_008753.1:g.433455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10955del MANE Select	ENSP00000360158.3:p.Pro3652GlnfsTer2
ENST00000371117.7:c.10955del	ENSP00000360158.3:p.Pro3652GlnfsTer2
NM_138694.3:c.10955del	NP_619639.3:p.Pro3652GlnfsTer2
XM_011514679.1:c.10955del	XP_011512981.1:p.Pro3652GlnfsTer2
XM_011514680.1:c.10955del	XP_011512982.1:p.Pro3652GlnfsTer2
XM_011514681.1:c.10826del	XP_011512983.1:p.Pro3609GlnfsTer2
XM_011514682.1:c.10817del	XP_011512984.1:p.Pro3606GlnfsTer2
XM_011514683.1:c.10313del	XP_011512985.1:p.Pro3438GlnfsTer2
XM_011514684.1:c.10244del	XP_011512986.1:p.Pro3415GlnfsTer2
XM_011514687.1:c.10157-9951del	XP_011512989.1:n.10157-9951del
XM_011514690.1:c.5030del	XP_011512992.1:p.Pro1677GlnfsTer2
XM_011514691.1:c.5030del	XP_011512993.1:p.Pro1677GlnfsTer2
XR_926870.1:n.535+6802del
XR_926871.1:n.403+6802del
XR_926872.1:n.535+6802del
XM_011514680.3:c.10955del	XP_011512982.1:p.Pro3652GlnfsTer2
XM_011514682.3:c.10817del	XP_011512984.1:p.Pro3606GlnfsTer2
XM_011514683.3:c.10313del	XP_011512985.1:p.Pro3438GlnfsTer2
XM_011514684.3:c.10244del	XP_011512986.1:p.Pro3415GlnfsTer2
XM_011514690.3:c.5030del	XP_011512992.1:p.Pro1677GlnfsTer2
XM_011514691.3:c.5030del	XP_011512993.1:p.Pro1677GlnfsTer2
XM_017010944.2:c.10955del	XP_016866433.1:p.Pro3652GlnfsTer2
XM_017010945.2:c.10880del	XP_016866434.1:p.Pro3627GlnfsTer2
XM_017010946.2:c.10760del	XP_016866435.1:p.Pro3587GlnfsTer2
XM_017010947.2:c.10691del	XP_016866436.1:p.Pro3564GlnfsTer2
XM_017010948.2:c.10244del	XP_016866437.1:p.Pro3415GlnfsTer2
XM_017010949.2:c.9095del	XP_016866438.1:p.Pro3032GlnfsTer2
XR_001743469.1:n.11231del
XR_001744157.1:n.3145+6802del
XR_926870.2:n.3145+6802del
XR_926871.2:n.3013+6802del
XR_926872.2:n.3145+6802del
NM_138694.4:c.10955del MANE Select	NP_619639.3:p.Pro3652GlnfsTer2