Canonical Allele Identifier: CA2679076978

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659595-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659596del , CM000668.2:g.51659596del	GRCh38
NC_000006.11:g.51524394del , CM000668.1:g.51524394del	GRCh37
NC_000006.10:g.51632353del	NCBI36
NG_008753.1:g.433030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10530del MANE Select	ENSP00000360158.3:p.Glu3512LysfsTer16
ENST00000371117.7:c.10530del	ENSP00000360158.3:p.Glu3512LysfsTer16
NM_138694.3:c.10530del	NP_619639.3:p.Glu3512LysfsTer16
XM_011514679.1:c.10530del	XP_011512981.1:p.Glu3512LysfsTer16
XM_011514680.1:c.10530del	XP_011512982.1:p.Glu3512LysfsTer16
XM_011514681.1:c.10401del	XP_011512983.1:p.Glu3469LysfsTer16
XM_011514682.1:c.10392del	XP_011512984.1:p.Glu3466LysfsTer16
XM_011514683.1:c.9888del	XP_011512985.1:p.Glu3298LysfsTer16
XM_011514684.1:c.9819del	XP_011512986.1:p.Glu3275LysfsTer16
XM_011514687.1:c.10157-10376del	XP_011512989.1:n.10157-10376del
XM_011514690.1:c.4605del	XP_011512992.1:p.Glu1537LysfsTer16
XM_011514691.1:c.4605del	XP_011512993.1:p.Glu1537LysfsTer16
XR_926870.1:n.535+7223del
XR_926871.1:n.403+7223del
XR_926872.1:n.535+7223del
XM_011514680.3:c.10530del	XP_011512982.1:p.Glu3512LysfsTer16
XM_011514682.3:c.10392del	XP_011512984.1:p.Glu3466LysfsTer16
XM_011514683.3:c.9888del	XP_011512985.1:p.Glu3298LysfsTer16
XM_011514684.3:c.9819del	XP_011512986.1:p.Glu3275LysfsTer16
XM_011514690.3:c.4605del	XP_011512992.1:p.Glu1537LysfsTer16
XM_011514691.3:c.4605del	XP_011512993.1:p.Glu1537LysfsTer16
XM_017010944.2:c.10530del	XP_016866433.1:p.Glu3512LysfsTer16
XM_017010945.2:c.10455del	XP_016866434.1:p.Glu3487LysfsTer16
XM_017010946.2:c.10335del	XP_016866435.1:p.Glu3447LysfsTer16
XM_017010947.2:c.10266del	XP_016866436.1:p.Glu3424LysfsTer16
XM_017010948.2:c.9819del	XP_016866437.1:p.Glu3275LysfsTer16
XM_017010949.2:c.8670del	XP_016866438.1:p.Glu2892LysfsTer16
XR_001743469.1:n.10806del
XR_001744157.1:n.3145+7223del
XR_926870.2:n.3145+7223del
XR_926871.2:n.3013+7223del
XR_926872.2:n.3145+7223del
NM_138694.4:c.10530del MANE Select	NP_619639.3:p.Glu3512LysfsTer16