Canonical Allele Identifier: CA2559440201

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659933_51659934insGTT , CM000668.2:g.51659933_51659934insGTT	GRCh38
NC_000006.11:g.51524731_51524732insGTT , CM000668.1:g.51524731_51524732insGTT	GRCh37
NC_000006.10:g.51632690_51632691insGTT	NCBI36
NG_008753.1:g.432692_432693insAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10192_10193insAAC MANE Select	ENSP00000360158.3:p.Phe3398Ter
ENST00000371117.7:c.10192_10193insAAC	ENSP00000360158.3:p.Phe3398Ter
NM_138694.3:c.10192_10193insAAC	NP_619639.3:p.Phe3398Ter
XM_011514679.1:c.10192_10193insAAC	XP_011512981.1:p.Phe3398Ter
XM_011514680.1:c.10192_10193insAAC	XP_011512982.1:p.Phe3398Ter
XM_011514681.1:c.10063_10064insAAC	XP_011512983.1:p.Phe3355Ter
XM_011514682.1:c.10054_10055insAAC	XP_011512984.1:p.Phe3352Ter
XM_011514683.1:c.9550_9551insAAC	XP_011512985.1:p.Phe3184Ter
XM_011514684.1:c.9481_9482insAAC	XP_011512986.1:p.Phe3161Ter
XM_011514687.1:c.10157-10714_10157-10713insAAC	XP_011512989.1:n.10157-10714_10157-10713insAAC
XM_011514690.1:c.4267_4268insAAC	XP_011512992.1:p.Phe1423Ter
XM_011514691.1:c.4267_4268insAAC	XP_011512993.1:p.Phe1423Ter
XR_926870.1:n.535+7560_535+7561insGTT
XR_926871.1:n.403+7560_403+7561insGTT
XR_926872.1:n.535+7560_535+7561insGTT
XM_011514680.3:c.10192_10193insAAC	XP_011512982.1:p.Phe3398Ter
XM_011514682.3:c.10054_10055insAAC	XP_011512984.1:p.Phe3352Ter
XM_011514683.3:c.9550_9551insAAC	XP_011512985.1:p.Phe3184Ter
XM_011514684.3:c.9481_9482insAAC	XP_011512986.1:p.Phe3161Ter
XM_011514690.3:c.4267_4268insAAC	XP_011512992.1:p.Phe1423Ter
XM_011514691.3:c.4267_4268insAAC	XP_011512993.1:p.Phe1423Ter
XM_017010944.2:c.10192_10193insAAC	XP_016866433.1:p.Phe3398Ter
XM_017010945.2:c.10117_10118insAAC	XP_016866434.1:p.Phe3373Ter
XM_017010946.2:c.9997_9998insAAC	XP_016866435.1:p.Phe3333Ter
XM_017010947.2:c.9928_9929insAAC	XP_016866436.1:p.Phe3310Ter
XM_017010948.2:c.9481_9482insAAC	XP_016866437.1:p.Phe3161Ter
XM_017010949.2:c.8332_8333insAAC	XP_016866438.1:p.Phe2778Ter
XR_001743469.1:n.10468_10469insAAC
XR_001744157.1:n.3145+7560_3145+7561insGTT
XR_926870.2:n.3145+7560_3145+7561insGTT
XR_926871.2:n.3013+7560_3013+7561insGTT
XR_926872.2:n.3145+7560_3145+7561insGTT
NM_138694.4:c.10192_10193insAAC MANE Select	NP_619639.3:p.Phe3398Ter