Canonical Allele Identifier: CA2695198859

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2677876
• ClinVar RCV Id: RCV003471695

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748272del , CM000668.2:g.51748272del	GRCh38
NC_000006.11:g.51613070del , CM000668.1:g.51613070del	GRCh37
NC_000006.10:g.51721029del	NCBI36
NG_008753.1:g.344355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9345del MANE Select	ENSP00000360158.3:p.Glu3115AspfsTer?
ENST00000340994.4:c.9345del	ENSP00000341097.4:p.Glu3115AspfsTer?
ENST00000371117.7:c.9345del	ENSP00000360158.3:p.Glu3115AspfsTer?
NM_138694.3:c.9345del	NP_619639.3:p.Glu3115AspfsTer?
NM_170724.2:c.9345del	NP_733842.2:p.Glu3115AspfsTer?
XM_011514679.1:c.9345del	XP_011512981.1:p.Glu3115AspfsTer?
XM_011514680.1:c.9345del	XP_011512982.1:p.Glu3115AspfsTer?
XM_011514681.1:c.9216del	XP_011512983.1:p.Glu3072AspfsTer?
XM_011514682.1:c.9207del	XP_011512984.1:p.Glu3069AspfsTer?
XM_011514683.1:c.8703del	XP_011512985.1:p.Glu2901AspfsTer?
XM_011514684.1:c.8634del	XP_011512986.1:p.Glu2878AspfsTer?
XM_011514685.1:c.9345del	XP_011512987.1:p.Glu3115AspfsTer?
XM_011514686.1:c.9345del	XP_011512988.1:p.Glu3115AspfsTer?
XM_011514687.1:c.9345del	XP_011512989.1:p.Glu3115AspfsTer?
XM_011514688.1:c.9345del	XP_011512990.1:p.Glu3115AspfsTer?
XM_011514690.1:c.3420del	XP_011512992.1:p.Glu1140AspfsTer?
XM_011514691.1:c.3420del	XP_011512993.1:p.Glu1140AspfsTer?
XM_011514680.3:c.9345del	XP_011512982.1:p.Glu3115AspfsTer?
XM_011514682.3:c.9207del	XP_011512984.1:p.Glu3069AspfsTer?
XM_011514683.3:c.8703del	XP_011512985.1:p.Glu2901AspfsTer?
XM_011514684.3:c.8634del	XP_011512986.1:p.Glu2878AspfsTer?
XM_011514686.2:c.9345del	XP_011512988.1:p.Glu3115AspfsTer?
XM_011514688.2:c.9345del	XP_011512990.1:p.Glu3115AspfsTer?
XM_011514690.3:c.3420del	XP_011512992.1:p.Glu1140AspfsTer?
XM_011514691.3:c.3420del	XP_011512993.1:p.Glu1140AspfsTer?
XM_017010944.2:c.9345del	XP_016866433.1:p.Glu3115AspfsTer?
XM_017010945.2:c.9270del	XP_016866434.1:p.Glu3090AspfsTer?
XM_017010946.2:c.9150del	XP_016866435.1:p.Glu3050AspfsTer?
XM_017010947.2:c.9081del	XP_016866436.1:p.Glu3027AspfsTer?
XM_017010948.2:c.8634del	XP_016866437.1:p.Glu2878AspfsTer?
XM_017010949.2:c.7485del	XP_016866438.1:p.Glu2495AspfsTer?
XM_017010950.1:c.9345del	XP_016866439.1:p.Glu3115AspfsTer?
XR_001743469.1:n.9621del
NM_138694.4:c.9345del MANE Select	NP_619639.3:p.Glu3115AspfsTer?
NM_170724.3:c.9345del	NP_733842.2:p.Glu3115AspfsTer?