Canonical Allele Identifier: CA1628438663

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659231_51659233delinsCTA , CM000668.2:g.51659231_51659233delinsCTA	GRCh38
NC_000006.11:g.51524029_51524031delinsCTA , CM000668.1:g.51524029_51524031delinsCTA	GRCh37
NC_000006.10:g.51631988_51631990delinsCTA	NCBI36
NG_008753.1:g.433393_433395delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10893_10895delinsTAG MANE Select	ENSP00000360158.3:p.Tyr3631=
ENST00000371117.7:c.10893_10895delinsTAG	ENSP00000360158.3:p.Tyr3631=
NM_138694.3:c.10893_10895delinsTAG	NP_619639.3:p.Tyr3631=
XM_011514679.1:c.10893_10895delinsTAG	XP_011512981.1:p.Tyr3631=
XM_011514680.1:c.10893_10895delinsTAG	XP_011512982.1:p.Tyr3631=
XM_011514681.1:c.10764_10766delinsTAG	XP_011512983.1:p.Tyr3588=
XM_011514682.1:c.10755_10757delinsTAG	XP_011512984.1:p.Tyr3585=
XM_011514683.1:c.10251_10253delinsTAG	XP_011512985.1:p.Tyr3417=
XM_011514684.1:c.10182_10184delinsTAG	XP_011512986.1:p.Tyr3394=
XM_011514687.1:c.10157-10013_10157-10011delinsTAG	XP_011512989.1:n.10157-10013_10157-10011delinsTAG
XM_011514690.1:c.4968_4970delinsTAG	XP_011512992.1:p.Tyr1656=
XM_011514691.1:c.4968_4970delinsTAG	XP_011512993.1:p.Tyr1656=
XR_926870.1:n.535+6858_535+6860delinsCTA
XR_926871.1:n.403+6858_403+6860delinsCTA
XR_926872.1:n.535+6858_535+6860delinsCTA
XM_011514680.3:c.10893_10895delinsTAG	XP_011512982.1:p.Tyr3631=
XM_011514682.3:c.10755_10757delinsTAG	XP_011512984.1:p.Tyr3585=
XM_011514683.3:c.10251_10253delinsTAG	XP_011512985.1:p.Tyr3417=
XM_011514684.3:c.10182_10184delinsTAG	XP_011512986.1:p.Tyr3394=
XM_011514690.3:c.4968_4970delinsTAG	XP_011512992.1:p.Tyr1656=
XM_011514691.3:c.4968_4970delinsTAG	XP_011512993.1:p.Tyr1656=
XM_017010944.2:c.10893_10895delinsTAG	XP_016866433.1:p.Tyr3631=
XM_017010945.2:c.10818_10820delinsTAG	XP_016866434.1:p.Tyr3606=
XM_017010946.2:c.10698_10700delinsTAG	XP_016866435.1:p.Tyr3566=
XM_017010947.2:c.10629_10631delinsTAG	XP_016866436.1:p.Tyr3543=
XM_017010948.2:c.10182_10184delinsTAG	XP_016866437.1:p.Tyr3394=
XM_017010949.2:c.9033_9035delinsTAG	XP_016866438.1:p.Tyr3011=
XR_001743469.1:n.11169_11171delinsTAG
XR_001744157.1:n.3145+6858_3145+6860delinsCTA
XR_926870.2:n.3145+6858_3145+6860delinsCTA
XR_926871.2:n.3013+6858_3013+6860delinsCTA
XR_926872.2:n.3145+6858_3145+6860delinsCTA
NM_138694.4:c.10893_10895delinsTAG MANE Select	NP_619639.3:p.Tyr3631=