Canonical Allele Identifier: CA2570703569
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659935_51659936insATCCAGTTGTATCTGTGACTAG , CM000668.2:g.51659935_51659936insATCCAGTTGTATCTGTGACTAG GRCh38
NC_000006.11:g.51524733_51524734insATCCAGTTGTATCTGTGACTAG , CM000668.1:g.51524733_51524734insATCCAGTTGTATCTGTGACTAG GRCh37
NC_000006.10:g.51632692_51632693insATCCAGTTGTATCTGTGACTAG NCBI36
NG_008753.1:g.432690_432691insCTAGTCACAGATACAACTGGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10190_10191insCTAGTCACAGATACAACTGGAT MANE Select ENSP00000360158.3:p.Gln3397HisfsTer2
ENST00000371117.7:c.10190_10191insCTAGTCACAGATACAACTGGAT ENSP00000360158.3:p.Gln3397HisfsTer2
NM_138694.3:c.10190_10191insCTAGTCACAGATACAACTGGAT NP_619639.3:p.Gln3397HisfsTer2
XM_011514679.1:c.10190_10191insCTAGTCACAGATACAACTGGAT XP_011512981.1:p.Gln3397HisfsTer2
XM_011514680.1:c.10190_10191insCTAGTCACAGATACAACTGGAT XP_011512982.1:p.Gln3397HisfsTer2
XM_011514681.1:c.10061_10062insCTAGTCACAGATACAACTGGAT XP_011512983.1:p.Gln3354HisfsTer2
XM_011514682.1:c.10052_10053insCTAGTCACAGATACAACTGGAT XP_011512984.1:p.Gln3351HisfsTer2
XM_011514683.1:c.9548_9549insCTAGTCACAGATACAACTGGAT XP_011512985.1:p.Gln3183HisfsTer2
XM_011514684.1:c.9479_9480insCTAGTCACAGATACAACTGGAT XP_011512986.1:p.Gln3160HisfsTer2
XM_011514687.1:c.10157-10716_10157-10715insCTAGTCACAGATACAACTGGAT XP_011512989.1:n.10157-10716_10157-10715insCTAGTCACAGATACAACT...
XM_011514690.1:c.4265_4266insCTAGTCACAGATACAACTGGAT XP_011512992.1:p.Gln1422HisfsTer2
XM_011514691.1:c.4265_4266insCTAGTCACAGATACAACTGGAT XP_011512993.1:p.Gln1422HisfsTer2
XR_926870.1:n.535+7562_535+7563insATCCAGTTGTATCTGTGACTAG
XR_926871.1:n.403+7562_403+7563insATCCAGTTGTATCTGTGACTAG
XR_926872.1:n.535+7562_535+7563insATCCAGTTGTATCTGTGACTAG
XM_011514680.3:c.10190_10191insCTAGTCACAGATACAACTGGAT XP_011512982.1:p.Gln3397HisfsTer2
XM_011514682.3:c.10052_10053insCTAGTCACAGATACAACTGGAT XP_011512984.1:p.Gln3351HisfsTer2
XM_011514683.3:c.9548_9549insCTAGTCACAGATACAACTGGAT XP_011512985.1:p.Gln3183HisfsTer2
XM_011514684.3:c.9479_9480insCTAGTCACAGATACAACTGGAT XP_011512986.1:p.Gln3160HisfsTer2
XM_011514690.3:c.4265_4266insCTAGTCACAGATACAACTGGAT XP_011512992.1:p.Gln1422HisfsTer2
XM_011514691.3:c.4265_4266insCTAGTCACAGATACAACTGGAT XP_011512993.1:p.Gln1422HisfsTer2
XM_017010944.2:c.10190_10191insCTAGTCACAGATACAACTGGAT XP_016866433.1:p.Gln3397HisfsTer2
XM_017010945.2:c.10115_10116insCTAGTCACAGATACAACTGGAT XP_016866434.1:p.Gln3372HisfsTer2
XM_017010946.2:c.9995_9996insCTAGTCACAGATACAACTGGAT XP_016866435.1:p.Gln3332HisfsTer2
XM_017010947.2:c.9926_9927insCTAGTCACAGATACAACTGGAT XP_016866436.1:p.Gln3309HisfsTer2
XM_017010948.2:c.9479_9480insCTAGTCACAGATACAACTGGAT XP_016866437.1:p.Gln3160HisfsTer2
XM_017010949.2:c.8330_8331insCTAGTCACAGATACAACTGGAT XP_016866438.1:p.Gln2777HisfsTer2
XR_001743469.1:n.10466_10467insCTAGTCACAGATACAACTGGAT
XR_001744157.1:n.3145+7562_3145+7563insATCCAGTTGTATCTGTGACTAG
XR_926870.2:n.3145+7562_3145+7563insATCCAGTTGTATCTGTGACTAG
XR_926871.2:n.3013+7562_3013+7563insATCCAGTTGTATCTGTGACTAG
XR_926872.2:n.3145+7562_3145+7563insATCCAGTTGTATCTGTGACTAG
NM_138694.4:c.10190_10191insCTAGTCACAGATACAACTGGAT MANE Select NP_619639.3:p.Gln3397HisfsTer2