Canonical Allele Identifier: CA645554297

Gene: PKHD1

Linked Data

• COSMIC: COSM5576335

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659266_51659267insT , CM000668.2:g.51659266_51659267insT	GRCh38
NC_000006.11:g.51524064_51524065insT , CM000668.1:g.51524064_51524065insT	GRCh37
NC_000006.10:g.51632023_51632024insT	NCBI36
NG_008753.1:g.433359_433360insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10859_10860insA MANE Select	ENSP00000360158.3:p.Asn3621GlnfsTer9
ENST00000371117.7:c.10859_10860insA	ENSP00000360158.3:p.Asn3621GlnfsTer9
NM_138694.3:c.10859_10860insA	NP_619639.3:p.Asn3621GlnfsTer9
XM_011514679.1:c.10859_10860insA	XP_011512981.1:p.Asn3621GlnfsTer9
XM_011514680.1:c.10859_10860insA	XP_011512982.1:p.Asn3621GlnfsTer9
XM_011514681.1:c.10730_10731insA	XP_011512983.1:p.Asn3578GlnfsTer9
XM_011514682.1:c.10721_10722insA	XP_011512984.1:p.Asn3575GlnfsTer9
XM_011514683.1:c.10217_10218insA	XP_011512985.1:p.Asn3407GlnfsTer9
XM_011514684.1:c.10148_10149insA	XP_011512986.1:p.Asn3384GlnfsTer9
XM_011514687.1:c.10157-10047_10157-10046insA	XP_011512989.1:n.10157-10047_10157-10046insA
XM_011514690.1:c.4934_4935insA	XP_011512992.1:p.Asn1646GlnfsTer9
XM_011514691.1:c.4934_4935insA	XP_011512993.1:p.Asn1646GlnfsTer9
XR_926870.1:n.535+6893_535+6894insT
XR_926871.1:n.403+6893_403+6894insT
XR_926872.1:n.535+6893_535+6894insT
XM_011514680.3:c.10859_10860insA	XP_011512982.1:p.Asn3621GlnfsTer9
XM_011514682.3:c.10721_10722insA	XP_011512984.1:p.Asn3575GlnfsTer9
XM_011514683.3:c.10217_10218insA	XP_011512985.1:p.Asn3407GlnfsTer9
XM_011514684.3:c.10148_10149insA	XP_011512986.1:p.Asn3384GlnfsTer9
XM_011514690.3:c.4934_4935insA	XP_011512992.1:p.Asn1646GlnfsTer9
XM_011514691.3:c.4934_4935insA	XP_011512993.1:p.Asn1646GlnfsTer9
XM_017010944.2:c.10859_10860insA	XP_016866433.1:p.Asn3621GlnfsTer9
XM_017010945.2:c.10784_10785insA	XP_016866434.1:p.Asn3596GlnfsTer9
XM_017010946.2:c.10664_10665insA	XP_016866435.1:p.Asn3556GlnfsTer9
XM_017010947.2:c.10595_10596insA	XP_016866436.1:p.Asn3533GlnfsTer9
XM_017010948.2:c.10148_10149insA	XP_016866437.1:p.Asn3384GlnfsTer9
XM_017010949.2:c.8999_9000insA	XP_016866438.1:p.Asn3001GlnfsTer9
XR_001743469.1:n.11135_11136insA
XR_001744157.1:n.3145+6893_3145+6894insT
XR_926870.2:n.3145+6893_3145+6894insT
XR_926871.2:n.3013+6893_3013+6894insT
XR_926872.2:n.3145+6893_3145+6894insT
NM_138694.4:c.10859_10860insA MANE Select	NP_619639.3:p.Asn3621GlnfsTer9