Canonical Allele Identifier: CA1628440017

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659931_51659932delinsGA , CM000668.2:g.51659931_51659932delinsGA	GRCh38
NC_000006.11:g.51524729_51524730delinsGA , CM000668.1:g.51524729_51524730delinsGA	GRCh37
NC_000006.10:g.51632688_51632689delinsGA	NCBI36
NG_008753.1:g.432694_432695delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10194_10195delinsTC MANE Select	ENSP00000360158.3:p.Phe3398=
ENST00000371117.7:c.10194_10195delinsTC	ENSP00000360158.3:p.Phe3398=
NM_138694.3:c.10194_10195delinsTC	NP_619639.3:p.Phe3398=
XM_011514679.1:c.10194_10195delinsTC	XP_011512981.1:p.Phe3398=
XM_011514680.1:c.10194_10195delinsTC	XP_011512982.1:p.Phe3398=
XM_011514681.1:c.10065_10066delinsTC	XP_011512983.1:p.Phe3355=
XM_011514682.1:c.10056_10057delinsTC	XP_011512984.1:p.Phe3352=
XM_011514683.1:c.9552_9553delinsTC	XP_011512985.1:p.Phe3184=
XM_011514684.1:c.9483_9484delinsTC	XP_011512986.1:p.Phe3161=
XM_011514687.1:c.10157-10712_10157-10711delinsTC	XP_011512989.1:n.10157-10712_10157-10711delinsTC
XM_011514690.1:c.4269_4270delinsTC	XP_011512992.1:p.Phe1423=
XM_011514691.1:c.4269_4270delinsTC	XP_011512993.1:p.Phe1423=
XR_926870.1:n.535+7558_535+7559delinsGA
XR_926871.1:n.403+7558_403+7559delinsGA
XR_926872.1:n.535+7558_535+7559delinsGA
XM_011514680.3:c.10194_10195delinsTC	XP_011512982.1:p.Phe3398=
XM_011514682.3:c.10056_10057delinsTC	XP_011512984.1:p.Phe3352=
XM_011514683.3:c.9552_9553delinsTC	XP_011512985.1:p.Phe3184=
XM_011514684.3:c.9483_9484delinsTC	XP_011512986.1:p.Phe3161=
XM_011514690.3:c.4269_4270delinsTC	XP_011512992.1:p.Phe1423=
XM_011514691.3:c.4269_4270delinsTC	XP_011512993.1:p.Phe1423=
XM_017010944.2:c.10194_10195delinsTC	XP_016866433.1:p.Phe3398=
XM_017010945.2:c.10119_10120delinsTC	XP_016866434.1:p.Phe3373=
XM_017010946.2:c.9999_10000delinsTC	XP_016866435.1:p.Phe3333=
XM_017010947.2:c.9930_9931delinsTC	XP_016866436.1:p.Phe3310=
XM_017010948.2:c.9483_9484delinsTC	XP_016866437.1:p.Phe3161=
XM_017010949.2:c.8334_8335delinsTC	XP_016866438.1:p.Phe2778=
XR_001743469.1:n.10470_10471delinsTC
XR_001744157.1:n.3145+7558_3145+7559delinsGA
XR_926870.2:n.3145+7558_3145+7559delinsGA
XR_926871.2:n.3013+7558_3013+7559delinsGA
XR_926872.2:n.3145+7558_3145+7559delinsGA
NM_138694.4:c.10194_10195delinsTC MANE Select	NP_619639.3:p.Phe3398=