Canonical Allele Identifier: CA913110686

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524071_51524072del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659273_51659274del , CM000668.2:g.51659273_51659274del	GRCh38
NC_000006.11:g.51524071_51524072del , CM000668.1:g.51524071_51524072del	GRCh37
NC_000006.10:g.51632030_51632031del	NCBI36
NG_008753.1:g.433353_433354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10853_10854del MANE Select	ENSP00000360158.3:p.Arg3618LysfsTer11
ENST00000371117.7:c.10853_10854del	ENSP00000360158.3:p.Arg3618LysfsTer11
NM_138694.3:c.10853_10854del	NP_619639.3:p.Arg3618LysfsTer11
XM_011514679.1:c.10853_10854del	XP_011512981.1:p.Arg3618LysfsTer11
XM_011514680.1:c.10853_10854del	XP_011512982.1:p.Arg3618LysfsTer11
XM_011514681.1:c.10724_10725del	XP_011512983.1:p.Arg3575LysfsTer11
XM_011514682.1:c.10715_10716del	XP_011512984.1:p.Arg3572LysfsTer11
XM_011514683.1:c.10211_10212del	XP_011512985.1:p.Arg3404LysfsTer11
XM_011514684.1:c.10142_10143del	XP_011512986.1:p.Arg3381LysfsTer11
XM_011514687.1:c.10157-10053_10157-10052del	XP_011512989.1:n.10157-10053_10157-10052del
XM_011514690.1:c.4928_4929del	XP_011512992.1:p.Arg1643LysfsTer11
XM_011514691.1:c.4928_4929del	XP_011512993.1:p.Arg1643LysfsTer11
XR_926870.1:n.535+6900_535+6901del
XR_926871.1:n.403+6900_403+6901del
XR_926872.1:n.535+6900_535+6901del
XM_011514680.3:c.10853_10854del	XP_011512982.1:p.Arg3618LysfsTer11
XM_011514682.3:c.10715_10716del	XP_011512984.1:p.Arg3572LysfsTer11
XM_011514683.3:c.10211_10212del	XP_011512985.1:p.Arg3404LysfsTer11
XM_011514684.3:c.10142_10143del	XP_011512986.1:p.Arg3381LysfsTer11
XM_011514690.3:c.4928_4929del	XP_011512992.1:p.Arg1643LysfsTer11
XM_011514691.3:c.4928_4929del	XP_011512993.1:p.Arg1643LysfsTer11
XM_017010944.2:c.10853_10854del	XP_016866433.1:p.Arg3618LysfsTer11
XM_017010945.2:c.10778_10779del	XP_016866434.1:p.Arg3593LysfsTer11
XM_017010946.2:c.10658_10659del	XP_016866435.1:p.Arg3553LysfsTer11
XM_017010947.2:c.10589_10590del	XP_016866436.1:p.Arg3530LysfsTer11
XM_017010948.2:c.10142_10143del	XP_016866437.1:p.Arg3381LysfsTer11
XM_017010949.2:c.8993_8994del	XP_016866438.1:p.Arg2998LysfsTer11
XR_001743469.1:n.11129_11130del
XR_001744157.1:n.3145+6900_3145+6901del
XR_926870.2:n.3145+6900_3145+6901del
XR_926871.2:n.3013+6900_3013+6901del
XR_926872.2:n.3145+6900_3145+6901del
NM_138694.4:c.10853_10854del MANE Select	NP_619639.3:p.Arg3618LysfsTer11