Canonical Allele Identifier: CA1628438751

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659265_51659267delinsTGC , CM000668.2:g.51659265_51659267delinsTGC	GRCh38
NC_000006.11:g.51524063_51524065delinsTGC , CM000668.1:g.51524063_51524065delinsTGC	GRCh37
NC_000006.10:g.51632022_51632024delinsTGC	NCBI36
NG_008753.1:g.433359_433361delinsGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10859_10861delinsGCA MANE Select	ENSP00000360158.3:p.Arg3620=
ENST00000371117.7:c.10859_10861delinsGCA	ENSP00000360158.3:p.Arg3620=
NM_138694.3:c.10859_10861delinsGCA	NP_619639.3:p.Arg3620=
XM_011514679.1:c.10859_10861delinsGCA	XP_011512981.1:p.Arg3620=
XM_011514680.1:c.10859_10861delinsGCA	XP_011512982.1:p.Arg3620=
XM_011514681.1:c.10730_10732delinsGCA	XP_011512983.1:p.Arg3577=
XM_011514682.1:c.10721_10723delinsGCA	XP_011512984.1:p.Arg3574=
XM_011514683.1:c.10217_10219delinsGCA	XP_011512985.1:p.Arg3406=
XM_011514684.1:c.10148_10150delinsGCA	XP_011512986.1:p.Arg3383=
XM_011514687.1:c.10157-10047_10157-10045delinsGCA	XP_011512989.1:n.10157-10047_10157-10045delinsGCA
XM_011514690.1:c.4934_4936delinsGCA	XP_011512992.1:p.Arg1645=
XM_011514691.1:c.4934_4936delinsGCA	XP_011512993.1:p.Arg1645=
XR_926870.1:n.535+6892_535+6894delinsTGC
XR_926871.1:n.403+6892_403+6894delinsTGC
XR_926872.1:n.535+6892_535+6894delinsTGC
XM_011514680.3:c.10859_10861delinsGCA	XP_011512982.1:p.Arg3620=
XM_011514682.3:c.10721_10723delinsGCA	XP_011512984.1:p.Arg3574=
XM_011514683.3:c.10217_10219delinsGCA	XP_011512985.1:p.Arg3406=
XM_011514684.3:c.10148_10150delinsGCA	XP_011512986.1:p.Arg3383=
XM_011514690.3:c.4934_4936delinsGCA	XP_011512992.1:p.Arg1645=
XM_011514691.3:c.4934_4936delinsGCA	XP_011512993.1:p.Arg1645=
XM_017010944.2:c.10859_10861delinsGCA	XP_016866433.1:p.Arg3620=
XM_017010945.2:c.10784_10786delinsGCA	XP_016866434.1:p.Arg3595=
XM_017010946.2:c.10664_10666delinsGCA	XP_016866435.1:p.Arg3555=
XM_017010947.2:c.10595_10597delinsGCA	XP_016866436.1:p.Arg3532=
XM_017010948.2:c.10148_10150delinsGCA	XP_016866437.1:p.Arg3383=
XM_017010949.2:c.8999_9001delinsGCA	XP_016866438.1:p.Arg3000=
XR_001743469.1:n.11135_11137delinsGCA
XR_001744157.1:n.3145+6892_3145+6894delinsTGC
XR_926870.2:n.3145+6892_3145+6894delinsTGC
XR_926871.2:n.3013+6892_3013+6894delinsTGC
XR_926872.2:n.3145+6892_3145+6894delinsTGC
NM_138694.4:c.10859_10861delinsGCA MANE Select	NP_619639.3:p.Arg3620=