Canonical Allele Identifier: CA1628438520

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659170_51659171delinsTG , CM000668.2:g.51659170_51659171delinsTG	GRCh38
NC_000006.11:g.51523968_51523969delinsTG , CM000668.1:g.51523968_51523969delinsTG	GRCh37
NC_000006.10:g.51631927_51631928delinsTG	NCBI36
NG_008753.1:g.433455_433456delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10955_10956delinsCA MANE Select	ENSP00000360158.3:p.Pro3652=
ENST00000371117.7:c.10955_10956delinsCA	ENSP00000360158.3:p.Pro3652=
NM_138694.3:c.10955_10956delinsCA	NP_619639.3:p.Pro3652=
XM_011514679.1:c.10955_10956delinsCA	XP_011512981.1:p.Pro3652=
XM_011514680.1:c.10955_10956delinsCA	XP_011512982.1:p.Pro3652=
XM_011514681.1:c.10826_10827delinsCA	XP_011512983.1:p.Pro3609=
XM_011514682.1:c.10817_10818delinsCA	XP_011512984.1:p.Pro3606=
XM_011514683.1:c.10313_10314delinsCA	XP_011512985.1:p.Pro3438=
XM_011514684.1:c.10244_10245delinsCA	XP_011512986.1:p.Pro3415=
XM_011514687.1:c.10157-9951_10157-9950delinsCA	XP_011512989.1:n.10157-9951_10157-9950delinsCA
XM_011514690.1:c.5030_5031delinsCA	XP_011512992.1:p.Pro1677=
XM_011514691.1:c.5030_5031delinsCA	XP_011512993.1:p.Pro1677=
XR_926870.1:n.535+6797_535+6798delinsTG
XR_926871.1:n.403+6797_403+6798delinsTG
XR_926872.1:n.535+6797_535+6798delinsTG
XM_011514680.3:c.10955_10956delinsCA	XP_011512982.1:p.Pro3652=
XM_011514682.3:c.10817_10818delinsCA	XP_011512984.1:p.Pro3606=
XM_011514683.3:c.10313_10314delinsCA	XP_011512985.1:p.Pro3438=
XM_011514684.3:c.10244_10245delinsCA	XP_011512986.1:p.Pro3415=
XM_011514690.3:c.5030_5031delinsCA	XP_011512992.1:p.Pro1677=
XM_011514691.3:c.5030_5031delinsCA	XP_011512993.1:p.Pro1677=
XM_017010944.2:c.10955_10956delinsCA	XP_016866433.1:p.Pro3652=
XM_017010945.2:c.10880_10881delinsCA	XP_016866434.1:p.Pro3627=
XM_017010946.2:c.10760_10761delinsCA	XP_016866435.1:p.Pro3587=
XM_017010947.2:c.10691_10692delinsCA	XP_016866436.1:p.Pro3564=
XM_017010948.2:c.10244_10245delinsCA	XP_016866437.1:p.Pro3415=
XM_017010949.2:c.9095_9096delinsCA	XP_016866438.1:p.Pro3032=
XR_001743469.1:n.11231_11232delinsCA
XR_001744157.1:n.3145+6797_3145+6798delinsTG
XR_926870.2:n.3145+6797_3145+6798delinsTG
XR_926871.2:n.3013+6797_3013+6798delinsTG
XR_926872.2:n.3145+6797_3145+6798delinsTG
NM_138694.4:c.10955_10956delinsCA MANE Select	NP_619639.3:p.Pro3652=