Canonical Allele Identifier: CA1628440086

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659964_51659970delinsATGTACC , CM000668.2:g.51659964_51659970delinsATGTACC	GRCh38
NC_000006.11:g.51524762_51524768delinsATGTACC , CM000668.1:g.51524762_51524768delinsATGTACC	GRCh37
NC_000006.10:g.51632721_51632727delinsATGTACC	NCBI36
NG_008753.1:g.432656_432662delinsGGTACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10157-1_10162delinsGGTACAT
ENST00000371117.7:c.10157-1_10162delinsGGTACAT
NM_138694.3:c.10157-1_10162delinsGGTACAT
XM_011514679.1:c.10157-1_10162delinsGGTACAT
XM_011514680.1:c.10157-1_10162delinsGGTACAT
XM_011514681.1:c.10028-1_10033delinsGGTACAT
XM_011514682.1:c.10019-1_10024delinsGGTACAT
XM_011514683.1:c.9515-1_9520delinsGGTACAT
XM_011514684.1:c.9446-1_9451delinsGGTACAT
XM_011514687.1:c.10157-10750_10157-10744delinsGGTACAT	XP_011512989.1:n.10157-10750_10157-10744delinsGGTACAT
XM_011514690.1:c.4232-1_4237delinsGGTACAT
XM_011514691.1:c.4232-1_4237delinsGGTACAT
XR_926870.1:n.535+7591_535+7597delinsATGTACC
XR_926871.1:n.403+7591_403+7597delinsATGTACC
XR_926872.1:n.535+7591_535+7597delinsATGTACC
XM_011514680.3:c.10157-1_10162delinsGGTACAT
XM_011514682.3:c.10019-1_10024delinsGGTACAT
XM_011514683.3:c.9515-1_9520delinsGGTACAT
XM_011514684.3:c.9446-1_9451delinsGGTACAT
XM_011514690.3:c.4232-1_4237delinsGGTACAT
XM_011514691.3:c.4232-1_4237delinsGGTACAT
XM_017010944.2:c.10157-1_10162delinsGGTACAT
XM_017010945.2:c.10082-1_10087delinsGGTACAT
XM_017010946.2:c.9962-1_9967delinsGGTACAT
XM_017010947.2:c.9893-1_9898delinsGGTACAT
XM_017010948.2:c.9446-1_9451delinsGGTACAT
XM_017010949.2:c.8297-1_8302delinsGGTACAT
XR_001743469.1:n.10433-1_10438delinsGGTACAT
XR_001744157.1:n.3145+7591_3145+7597delinsATGTACC
XR_926870.2:n.3145+7591_3145+7597delinsATGTACC
XR_926871.2:n.3013+7591_3013+7597delinsATGTACC
XR_926872.2:n.3145+7591_3145+7597delinsATGTACC
NM_138694.4:c.10157-1_10162delinsGGTACAT