Canonical Allele Identifier: CA2697553475

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2691417
• ClinVar RCV Id: RCV003486502

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51912413_51912425delinsTC , CM000668.2:g.51912413_51912425delinsTC	GRCh38
NC_000006.11:g.51777211_51777223delinsTC , CM000668.1:g.51777211_51777223delinsTC	GRCh37
NC_000006.10:g.51885170_51885182delinsTC	NCBI36
NG_008753.1:g.180201_180213delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.6273_6285delinsGA MANE Select	ENSP00000360158.3:p.Glu2092SerfsTer12
ENST00000340994.4:c.6273_6285delinsGA	ENSP00000341097.4:p.Glu2092SerfsTer12
ENST00000371117.7:c.6273_6285delinsGA	ENSP00000360158.3:p.Glu2092SerfsTer12
NM_138694.3:c.6273_6285delinsGA	NP_619639.3:p.Glu2092SerfsTer12
NM_170724.2:c.6273_6285delinsGA	NP_733842.2:p.Glu2092SerfsTer12
XM_011514679.1:c.6273_6285delinsGA	XP_011512981.1:p.Glu2092SerfsTer12
XM_011514680.1:c.6273_6285delinsGA	XP_011512982.1:p.Glu2092SerfsTer12
XM_011514681.1:c.6273_6285delinsGA	XP_011512983.1:p.Glu2092SerfsTer12
XM_011514682.1:c.6273_6285delinsGA	XP_011512984.1:p.Glu2092SerfsTer12
XM_011514683.1:c.5631_5643delinsGA	XP_011512985.1:p.Glu1878SerfsTer12
XM_011514684.1:c.5562_5574delinsGA	XP_011512986.1:p.Glu1855SerfsTer12
XM_011514685.1:c.6273_6285delinsGA	XP_011512987.1:p.Glu2092SerfsTer12
XM_011514686.1:c.6273_6285delinsGA	XP_011512988.1:p.Glu2092SerfsTer12
XM_011514687.1:c.6273_6285delinsGA	XP_011512989.1:p.Glu2092SerfsTer12
XM_011514688.1:c.6273_6285delinsGA	XP_011512990.1:p.Glu2092SerfsTer12
XM_011514689.1:c.6273_6285delinsGA	XP_011512991.1:p.Glu2092SerfsTer12
XM_011514690.1:c.348_360delinsGA	XP_011512992.1:p.Glu117SerfsTer12
XM_011514691.1:c.348_360delinsGA	XP_011512993.1:p.Glu117SerfsTer12
XM_011514680.3:c.6273_6285delinsGA	XP_011512982.1:p.Glu2092SerfsTer12
XM_011514682.3:c.6273_6285delinsGA	XP_011512984.1:p.Glu2092SerfsTer12
XM_011514683.3:c.5631_5643delinsGA	XP_011512985.1:p.Glu1878SerfsTer12
XM_011514684.3:c.5562_5574delinsGA	XP_011512986.1:p.Glu1855SerfsTer12
XM_011514686.2:c.6273_6285delinsGA	XP_011512988.1:p.Glu2092SerfsTer12
XM_011514688.2:c.6273_6285delinsGA	XP_011512990.1:p.Glu2092SerfsTer12
XM_011514690.3:c.348_360delinsGA	XP_011512992.1:p.Glu117SerfsTer12
XM_011514691.3:c.348_360delinsGA	XP_011512993.1:p.Glu117SerfsTer12
XM_017010944.2:c.6273_6285delinsGA	XP_016866433.1:p.Glu2092SerfsTer12
XM_017010945.2:c.6198_6210delinsGA	XP_016866434.1:p.Glu2067SerfsTer12
XM_017010946.2:c.6273_6285delinsGA	XP_016866435.1:p.Glu2092SerfsTer12
XM_017010947.2:c.6009_6021delinsGA	XP_016866436.1:p.Glu2004SerfsTer12
XM_017010948.2:c.5562_5574delinsGA	XP_016866437.1:p.Glu1855SerfsTer12
XM_017010949.2:c.4413_4425delinsGA	XP_016866438.1:p.Glu1472SerfsTer12
XM_017010950.1:c.6273_6285delinsGA	XP_016866439.1:p.Glu2092SerfsTer12
XM_017010951.1:c.6273_6285delinsGA	XP_016866440.1:p.Glu2092SerfsTer12
XM_017010952.1:c.6273_6285delinsGA	XP_016866441.1:p.Glu2092SerfsTer12
XR_001743469.1:n.6549_6561delinsGA
NM_138694.4:c.6273_6285delinsGA MANE Select	NP_619639.3:p.Glu2092SerfsTer12
NM_170724.3:c.6273_6285delinsGA	NP_733842.2:p.Glu2092SerfsTer12