Canonical Allele Identifier: CA645554296

Gene: PKHD1

Linked Data

• COSMIC: COSM5870876

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659019_51659020del , CM000668.2:g.51659019_51659020del	GRCh38
NC_000006.11:g.51523817_51523818del , CM000668.1:g.51523817_51523818del	GRCh37
NC_000006.10:g.51631776_51631777del	NCBI36
NG_008753.1:g.433609_433610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11109_11110del MANE Select	ENSP00000360158.3:p.Asn3704CysfsTer27
ENST00000371117.7:c.11109_11110del	ENSP00000360158.3:p.Asn3704CysfsTer27
NM_138694.3:c.11109_11110del	NP_619639.3:p.Asn3704CysfsTer27
XM_011514679.1:c.11109_11110del	XP_011512981.1:p.Asn3704CysfsTer27
XM_011514680.1:c.11109_11110del	XP_011512982.1:p.Asn3704CysfsTer27
XM_011514681.1:c.10980_10981del	XP_011512983.1:p.Asn3661CysfsTer27
XM_011514682.1:c.10971_10972del	XP_011512984.1:p.Asn3658CysfsTer27
XM_011514683.1:c.10467_10468del	XP_011512985.1:p.Asn3490CysfsTer27
XM_011514684.1:c.10398_10399del	XP_011512986.1:p.Asn3467CysfsTer27
XM_011514687.1:c.10157-9797_10157-9796del	XP_011512989.1:n.10157-9797_10157-9796del
XM_011514690.1:c.5184_5185del	XP_011512992.1:p.Asn1729CysfsTer27
XM_011514691.1:c.5184_5185del	XP_011512993.1:p.Asn1729CysfsTer27
XR_926870.1:n.535+6646_535+6647del
XR_926871.1:n.403+6646_403+6647del
XR_926872.1:n.535+6646_535+6647del
XM_011514680.3:c.11109_11110del	XP_011512982.1:p.Asn3704CysfsTer27
XM_011514682.3:c.10971_10972del	XP_011512984.1:p.Asn3658CysfsTer27
XM_011514683.3:c.10467_10468del	XP_011512985.1:p.Asn3490CysfsTer27
XM_011514684.3:c.10398_10399del	XP_011512986.1:p.Asn3467CysfsTer27
XM_011514690.3:c.5184_5185del	XP_011512992.1:p.Asn1729CysfsTer27
XM_011514691.3:c.5184_5185del	XP_011512993.1:p.Asn1729CysfsTer27
XM_017010944.2:c.11109_11110del	XP_016866433.1:p.Asn3704CysfsTer27
XM_017010945.2:c.11034_11035del	XP_016866434.1:p.Asn3679CysfsTer27
XM_017010946.2:c.10914_10915del	XP_016866435.1:p.Asn3639CysfsTer27
XM_017010947.2:c.10845_10846del	XP_016866436.1:p.Asn3616CysfsTer27
XM_017010948.2:c.10398_10399del	XP_016866437.1:p.Asn3467CysfsTer27
XM_017010949.2:c.9249_9250del	XP_016866438.1:p.Asn3084CysfsTer27
XR_001743469.1:n.11385_11386del
XR_001744157.1:n.3145+6646_3145+6647del
XR_926870.2:n.3145+6646_3145+6647del
XR_926871.2:n.3013+6646_3013+6647del
XR_926872.2:n.3145+6646_3145+6647del
NM_138694.4:c.11109_11110del MANE Select	NP_619639.3:p.Asn3704CysfsTer27