Canonical Allele Identifier: CA2695198868

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2677848
• ClinVar RCV Id: RCV003463277

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51912413_51912425delinsCTC , CM000668.2:g.51912413_51912425delinsCTC	GRCh38
NC_000006.11:g.51777211_51777223delinsCTC , CM000668.1:g.51777211_51777223delinsCTC	GRCh37
NC_000006.10:g.51885170_51885182delinsCTC	NCBI36
NG_008753.1:g.180201_180213delinsGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.6273_6285delinsGAG MANE Select	ENSP00000360158.3:p.Glu2092ArgfsTer16
ENST00000340994.4:c.6273_6285delinsGAG	ENSP00000341097.4:p.Glu2092ArgfsTer16
ENST00000371117.7:c.6273_6285delinsGAG	ENSP00000360158.3:p.Glu2092ArgfsTer16
NM_138694.3:c.6273_6285delinsGAG	NP_619639.3:p.Glu2092ArgfsTer16
NM_170724.2:c.6273_6285delinsGAG	NP_733842.2:p.Glu2092ArgfsTer16
XM_011514679.1:c.6273_6285delinsGAG	XP_011512981.1:p.Glu2092ArgfsTer16
XM_011514680.1:c.6273_6285delinsGAG	XP_011512982.1:p.Glu2092ArgfsTer16
XM_011514681.1:c.6273_6285delinsGAG	XP_011512983.1:p.Glu2092ArgfsTer16
XM_011514682.1:c.6273_6285delinsGAG	XP_011512984.1:p.Glu2092ArgfsTer16
XM_011514683.1:c.5631_5643delinsGAG	XP_011512985.1:p.Glu1878ArgfsTer16
XM_011514684.1:c.5562_5574delinsGAG	XP_011512986.1:p.Glu1855ArgfsTer16
XM_011514685.1:c.6273_6285delinsGAG	XP_011512987.1:p.Glu2092ArgfsTer16
XM_011514686.1:c.6273_6285delinsGAG	XP_011512988.1:p.Glu2092ArgfsTer16
XM_011514687.1:c.6273_6285delinsGAG	XP_011512989.1:p.Glu2092ArgfsTer16
XM_011514688.1:c.6273_6285delinsGAG	XP_011512990.1:p.Glu2092ArgfsTer16
XM_011514689.1:c.6273_6285delinsGAG	XP_011512991.1:p.Glu2092ArgfsTer16
XM_011514690.1:c.348_360delinsGAG	XP_011512992.1:p.Glu117ArgfsTer16
XM_011514691.1:c.348_360delinsGAG	XP_011512993.1:p.Glu117ArgfsTer16
XM_011514680.3:c.6273_6285delinsGAG	XP_011512982.1:p.Glu2092ArgfsTer16
XM_011514682.3:c.6273_6285delinsGAG	XP_011512984.1:p.Glu2092ArgfsTer16
XM_011514683.3:c.5631_5643delinsGAG	XP_011512985.1:p.Glu1878ArgfsTer16
XM_011514684.3:c.5562_5574delinsGAG	XP_011512986.1:p.Glu1855ArgfsTer16
XM_011514686.2:c.6273_6285delinsGAG	XP_011512988.1:p.Glu2092ArgfsTer16
XM_011514688.2:c.6273_6285delinsGAG	XP_011512990.1:p.Glu2092ArgfsTer16
XM_011514690.3:c.348_360delinsGAG	XP_011512992.1:p.Glu117ArgfsTer16
XM_011514691.3:c.348_360delinsGAG	XP_011512993.1:p.Glu117ArgfsTer16
XM_017010944.2:c.6273_6285delinsGAG	XP_016866433.1:p.Glu2092ArgfsTer16
XM_017010945.2:c.6198_6210delinsGAG	XP_016866434.1:p.Glu2067ArgfsTer16
XM_017010946.2:c.6273_6285delinsGAG	XP_016866435.1:p.Glu2092ArgfsTer16
XM_017010947.2:c.6009_6021delinsGAG	XP_016866436.1:p.Glu2004ArgfsTer16
XM_017010948.2:c.5562_5574delinsGAG	XP_016866437.1:p.Glu1855ArgfsTer16
XM_017010949.2:c.4413_4425delinsGAG	XP_016866438.1:p.Glu1472ArgfsTer16
XM_017010950.1:c.6273_6285delinsGAG	XP_016866439.1:p.Glu2092ArgfsTer16
XM_017010951.1:c.6273_6285delinsGAG	XP_016866440.1:p.Glu2092ArgfsTer16
XM_017010952.1:c.6273_6285delinsGAG	XP_016866441.1:p.Glu2092ArgfsTer16
XR_001743469.1:n.6549_6561delinsGAG
NM_138694.4:c.6273_6285delinsGAG MANE Select	NP_619639.3:p.Glu2092ArgfsTer16
NM_170724.3:c.6273_6285delinsGAG	NP_733842.2:p.Glu2092ArgfsTer16