Canonical Allele Identifier: CA913110699

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524729_51524730del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659931_51659932del , CM000668.2:g.51659931_51659932del	GRCh38
NC_000006.11:g.51524729_51524730del , CM000668.1:g.51524729_51524730del	GRCh37
NC_000006.10:g.51632688_51632689del	NCBI36
NG_008753.1:g.432695_432696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10195_10196del MANE Select	ENSP00000360158.3:p.Leu3399AspfsTer10
ENST00000371117.7:c.10195_10196del	ENSP00000360158.3:p.Leu3399AspfsTer10
NM_138694.3:c.10195_10196del	NP_619639.3:p.Leu3399AspfsTer10
XM_011514679.1:c.10195_10196del	XP_011512981.1:p.Leu3399AspfsTer10
XM_011514680.1:c.10195_10196del	XP_011512982.1:p.Leu3399AspfsTer10
XM_011514681.1:c.10066_10067del	XP_011512983.1:p.Leu3356AspfsTer10
XM_011514682.1:c.10057_10058del	XP_011512984.1:p.Leu3353AspfsTer10
XM_011514683.1:c.9553_9554del	XP_011512985.1:p.Leu3185AspfsTer10
XM_011514684.1:c.9484_9485del	XP_011512986.1:p.Leu3162AspfsTer10
XM_011514687.1:c.10157-10711_10157-10710del	XP_011512989.1:n.10157-10711_10157-10710del
XM_011514690.1:c.4270_4271del	XP_011512992.1:p.Leu1424AspfsTer10
XM_011514691.1:c.4270_4271del	XP_011512993.1:p.Leu1424AspfsTer10
XR_926870.1:n.535+7558_535+7559del
XR_926871.1:n.403+7558_403+7559del
XR_926872.1:n.535+7558_535+7559del
XM_011514680.3:c.10195_10196del	XP_011512982.1:p.Leu3399AspfsTer10
XM_011514682.3:c.10057_10058del	XP_011512984.1:p.Leu3353AspfsTer10
XM_011514683.3:c.9553_9554del	XP_011512985.1:p.Leu3185AspfsTer10
XM_011514684.3:c.9484_9485del	XP_011512986.1:p.Leu3162AspfsTer10
XM_011514690.3:c.4270_4271del	XP_011512992.1:p.Leu1424AspfsTer10
XM_011514691.3:c.4270_4271del	XP_011512993.1:p.Leu1424AspfsTer10
XM_017010944.2:c.10195_10196del	XP_016866433.1:p.Leu3399AspfsTer10
XM_017010945.2:c.10120_10121del	XP_016866434.1:p.Leu3374AspfsTer10
XM_017010946.2:c.10000_10001del	XP_016866435.1:p.Leu3334AspfsTer10
XM_017010947.2:c.9931_9932del	XP_016866436.1:p.Leu3311AspfsTer10
XM_017010948.2:c.9484_9485del	XP_016866437.1:p.Leu3162AspfsTer10
XM_017010949.2:c.8335_8336del	XP_016866438.1:p.Leu2779AspfsTer10
XR_001743469.1:n.10471_10472del
XR_001744157.1:n.3145+7558_3145+7559del
XR_926870.2:n.3145+7558_3145+7559del
XR_926871.2:n.3013+7558_3013+7559del
XR_926872.2:n.3145+7558_3145+7559del
NM_138694.4:c.10195_10196del MANE Select	NP_619639.3:p.Leu3399AspfsTer10