Canonical Allele Identifier: CA2580075413

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2028487
• ClinVar RCV Id: RCV002876161

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659066delinsAA , CM000668.2:g.51659066delinsAA	GRCh38
NC_000006.11:g.51523864delinsAA , CM000668.1:g.51523864delinsAA	GRCh37
NC_000006.10:g.51631823delinsAA	NCBI36
NG_008753.1:g.433560delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11060delinsTT MANE Select	ENSP00000360158.3:p.Gln3687LeufsTer?
ENST00000371117.7:c.11060delinsTT	ENSP00000360158.3:p.Gln3687LeufsTer?
NM_138694.3:c.11060delinsTT	NP_619639.3:p.Gln3687LeufsTer?
XM_011514679.1:c.11060delinsTT	XP_011512981.1:p.Gln3687LeufsTer?
XM_011514680.1:c.11060delinsTT	XP_011512982.1:p.Gln3687LeufsTer?
XM_011514681.1:c.10931delinsTT	XP_011512983.1:p.Gln3644LeufsTer?
XM_011514682.1:c.10922delinsTT	XP_011512984.1:p.Gln3641LeufsTer?
XM_011514683.1:c.10418delinsTT	XP_011512985.1:p.Gln3473LeufsTer?
XM_011514684.1:c.10349delinsTT	XP_011512986.1:p.Gln3450LeufsTer?
XM_011514687.1:c.10157-9846delinsTT	XP_011512989.1:n.10157-9846delinsTT
XM_011514690.1:c.5135delinsTT	XP_011512992.1:p.Gln1712LeufsTer?
XM_011514691.1:c.5135delinsTT	XP_011512993.1:p.Gln1712LeufsTer?
XR_926870.1:n.535+6693delinsAA
XR_926871.1:n.403+6693delinsAA
XR_926872.1:n.535+6693delinsAA
XM_011514680.3:c.11060delinsTT	XP_011512982.1:p.Gln3687LeufsTer?
XM_011514682.3:c.10922delinsTT	XP_011512984.1:p.Gln3641LeufsTer?
XM_011514683.3:c.10418delinsTT	XP_011512985.1:p.Gln3473LeufsTer?
XM_011514684.3:c.10349delinsTT	XP_011512986.1:p.Gln3450LeufsTer?
XM_011514690.3:c.5135delinsTT	XP_011512992.1:p.Gln1712LeufsTer?
XM_011514691.3:c.5135delinsTT	XP_011512993.1:p.Gln1712LeufsTer?
XM_017010944.2:c.11060delinsTT	XP_016866433.1:p.Gln3687LeufsTer?
XM_017010945.2:c.10985delinsTT	XP_016866434.1:p.Gln3662LeufsTer?
XM_017010946.2:c.10865delinsTT	XP_016866435.1:p.Gln3622LeufsTer?
XM_017010947.2:c.10796delinsTT	XP_016866436.1:p.Gln3599LeufsTer?
XM_017010948.2:c.10349delinsTT	XP_016866437.1:p.Gln3450LeufsTer?
XM_017010949.2:c.9200delinsTT	XP_016866438.1:p.Gln3067LeufsTer?
XR_001743469.1:n.11336delinsTT
XR_001744157.1:n.3145+6693delinsAA
XR_926870.2:n.3145+6693delinsAA
XR_926871.2:n.3013+6693delinsAA
XR_926872.2:n.3145+6693delinsAA
NM_138694.4:c.11060delinsTT MANE Select	NP_619639.3:p.Gln3687LeufsTer?