Canonical Allele Identifier: CA2697553452

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2690674
• ClinVar RCV Id: RCV003493241

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659282_51659283dup , CM000668.2:g.51659282_51659283dup	GRCh38
NC_000006.11:g.51524080_51524081dup , CM000668.1:g.51524080_51524081dup	GRCh37
NC_000006.10:g.51632039_51632040dup	NCBI36
NG_008753.1:g.433345_433346dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10845_10846dup MANE Select	ENSP00000360158.3:p.Ala3616GlufsTer11
ENST00000371117.7:c.10845_10846dup	ENSP00000360158.3:p.Ala3616GlufsTer11
NM_138694.3:c.10845_10846dup	NP_619639.3:p.Ala3616GlufsTer11
XM_011514679.1:c.10845_10846dup	XP_011512981.1:p.Ala3616GlufsTer11
XM_011514680.1:c.10845_10846dup	XP_011512982.1:p.Ala3616GlufsTer11
XM_011514681.1:c.10716_10717dup	XP_011512983.1:p.Ala3573GlufsTer11
XM_011514682.1:c.10707_10708dup	XP_011512984.1:p.Ala3570GlufsTer11
XM_011514683.1:c.10203_10204dup	XP_011512985.1:p.Ala3402GlufsTer11
XM_011514684.1:c.10134_10135dup	XP_011512986.1:p.Ala3379GlufsTer11
XM_011514687.1:c.10157-10061_10157-10060dup	XP_011512989.1:n.10157-10061_10157-10060dup
XM_011514690.1:c.4920_4921dup	XP_011512992.1:p.Ala1641GlufsTer11
XM_011514691.1:c.4920_4921dup	XP_011512993.1:p.Ala1641GlufsTer11
XR_926870.1:n.535+6909_535+6910dup
XR_926871.1:n.403+6909_403+6910dup
XR_926872.1:n.535+6909_535+6910dup
XM_011514680.3:c.10845_10846dup	XP_011512982.1:p.Ala3616GlufsTer11
XM_011514682.3:c.10707_10708dup	XP_011512984.1:p.Ala3570GlufsTer11
XM_011514683.3:c.10203_10204dup	XP_011512985.1:p.Ala3402GlufsTer11
XM_011514684.3:c.10134_10135dup	XP_011512986.1:p.Ala3379GlufsTer11
XM_011514690.3:c.4920_4921dup	XP_011512992.1:p.Ala1641GlufsTer11
XM_011514691.3:c.4920_4921dup	XP_011512993.1:p.Ala1641GlufsTer11
XM_017010944.2:c.10845_10846dup	XP_016866433.1:p.Ala3616GlufsTer11
XM_017010945.2:c.10770_10771dup	XP_016866434.1:p.Ala3591GlufsTer11
XM_017010946.2:c.10650_10651dup	XP_016866435.1:p.Ala3551GlufsTer11
XM_017010947.2:c.10581_10582dup	XP_016866436.1:p.Ala3528GlufsTer11
XM_017010948.2:c.10134_10135dup	XP_016866437.1:p.Ala3379GlufsTer11
XM_017010949.2:c.8985_8986dup	XP_016866438.1:p.Ala2996GlufsTer11
XR_001743469.1:n.11121_11122dup
XR_001744157.1:n.3145+6909_3145+6910dup
XR_926870.2:n.3145+6909_3145+6910dup
XR_926871.2:n.3013+6909_3013+6910dup
XR_926872.2:n.3145+6909_3145+6910dup
NM_138694.4:c.10845_10846dup MANE Select	NP_619639.3:p.Ala3616GlufsTer11