Canonical Allele Identifier: CA2697553451

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2698189
• ClinVar RCV Id: RCV003502899

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659268_51659280dup , CM000668.2:g.51659268_51659280dup	GRCh38
NC_000006.11:g.51524066_51524078dup , CM000668.1:g.51524066_51524078dup	GRCh37
NC_000006.10:g.51632025_51632037dup	NCBI36
NG_008753.1:g.433350_433362dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10850_10862dup MANE Select	ENSP00000360158.3:p.Asn3621LysfsTer13
ENST00000371117.7:c.10850_10862dup	ENSP00000360158.3:p.Asn3621LysfsTer13
NM_138694.3:c.10850_10862dup	NP_619639.3:p.Asn3621LysfsTer13
XM_011514679.1:c.10850_10862dup	XP_011512981.1:p.Asn3621LysfsTer13
XM_011514680.1:c.10850_10862dup	XP_011512982.1:p.Asn3621LysfsTer13
XM_011514681.1:c.10721_10733dup	XP_011512983.1:p.Asn3578LysfsTer13
XM_011514682.1:c.10712_10724dup	XP_011512984.1:p.Asn3575LysfsTer13
XM_011514683.1:c.10208_10220dup	XP_011512985.1:p.Asn3407LysfsTer13
XM_011514684.1:c.10139_10151dup	XP_011512986.1:p.Asn3384LysfsTer13
XM_011514687.1:c.10157-10056_10157-10044dup	XP_011512989.1:n.10157-10056_10157-10044dup
XM_011514690.1:c.4925_4937dup	XP_011512992.1:p.Asn1646LysfsTer13
XM_011514691.1:c.4925_4937dup	XP_011512993.1:p.Asn1646LysfsTer13
XR_926870.1:n.535+6895_535+6907dup
XR_926871.1:n.403+6895_403+6907dup
XR_926872.1:n.535+6895_535+6907dup
XM_011514680.3:c.10850_10862dup	XP_011512982.1:p.Asn3621LysfsTer13
XM_011514682.3:c.10712_10724dup	XP_011512984.1:p.Asn3575LysfsTer13
XM_011514683.3:c.10208_10220dup	XP_011512985.1:p.Asn3407LysfsTer13
XM_011514684.3:c.10139_10151dup	XP_011512986.1:p.Asn3384LysfsTer13
XM_011514690.3:c.4925_4937dup	XP_011512992.1:p.Asn1646LysfsTer13
XM_011514691.3:c.4925_4937dup	XP_011512993.1:p.Asn1646LysfsTer13
XM_017010944.2:c.10850_10862dup	XP_016866433.1:p.Asn3621LysfsTer13
XM_017010945.2:c.10775_10787dup	XP_016866434.1:p.Asn3596LysfsTer13
XM_017010946.2:c.10655_10667dup	XP_016866435.1:p.Asn3556LysfsTer13
XM_017010947.2:c.10586_10598dup	XP_016866436.1:p.Asn3533LysfsTer13
XM_017010948.2:c.10139_10151dup	XP_016866437.1:p.Asn3384LysfsTer13
XM_017010949.2:c.8990_9002dup	XP_016866438.1:p.Asn3001LysfsTer13
XR_001743469.1:n.11126_11138dup
XR_001744157.1:n.3145+6895_3145+6907dup
XR_926870.2:n.3145+6895_3145+6907dup
XR_926871.2:n.3013+6895_3013+6907dup
XR_926872.2:n.3145+6895_3145+6907dup
NM_138694.4:c.10850_10862dup MANE Select	NP_619639.3:p.Asn3621LysfsTer13