Canonical Allele Identifier: CA658821697

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 552098
• ClinVar RCV Id: RCV000667303 ; RCV003459584
• dbSNP Id: rs1554183235
• gnomAD v4: 6-51659269-CT-C
• MyVariant Identifiers: chr6:g.51659270del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659272del , CM000668.2:g.51659272del	GRCh38
NC_000006.11:g.51524070del , CM000668.1:g.51524070del	GRCh37
NC_000006.10:g.51632029del	NCBI36
NG_008753.1:g.433356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10856del MANE Select	ENSP00000360158.3:p.Lys3619SerfsTer7
ENST00000371117.7:c.10856del	ENSP00000360158.3:p.Lys3619SerfsTer7
NM_138694.3:c.10856del	NP_619639.3:p.Lys3619SerfsTer7
XM_011514679.1:c.10856del	XP_011512981.1:p.Lys3619SerfsTer7
XM_011514680.1:c.10856del	XP_011512982.1:p.Lys3619SerfsTer7
XM_011514681.1:c.10727del	XP_011512983.1:p.Lys3576SerfsTer7
XM_011514682.1:c.10718del	XP_011512984.1:p.Lys3573SerfsTer7
XM_011514683.1:c.10214del	XP_011512985.1:p.Lys3405SerfsTer7
XM_011514684.1:c.10145del	XP_011512986.1:p.Lys3382SerfsTer7
XM_011514687.1:c.10157-10050del	XP_011512989.1:n.10157-10050del
XM_011514690.1:c.4931del	XP_011512992.1:p.Lys1644SerfsTer7
XM_011514691.1:c.4931del	XP_011512993.1:p.Lys1644SerfsTer7
XR_926870.1:n.535+6899del
XR_926871.1:n.403+6899del
XR_926872.1:n.535+6899del
XM_011514680.3:c.10856del	XP_011512982.1:p.Lys3619SerfsTer7
XM_011514682.3:c.10718del	XP_011512984.1:p.Lys3573SerfsTer7
XM_011514683.3:c.10214del	XP_011512985.1:p.Lys3405SerfsTer7
XM_011514684.3:c.10145del	XP_011512986.1:p.Lys3382SerfsTer7
XM_011514690.3:c.4931del	XP_011512992.1:p.Lys1644SerfsTer7
XM_011514691.3:c.4931del	XP_011512993.1:p.Lys1644SerfsTer7
XM_017010944.2:c.10856del	XP_016866433.1:p.Lys3619SerfsTer7
XM_017010945.2:c.10781del	XP_016866434.1:p.Lys3594SerfsTer7
XM_017010946.2:c.10661del	XP_016866435.1:p.Lys3554SerfsTer7
XM_017010947.2:c.10592del	XP_016866436.1:p.Lys3531SerfsTer7
XM_017010948.2:c.10145del	XP_016866437.1:p.Lys3382SerfsTer7
XM_017010949.2:c.8996del	XP_016866438.1:p.Lys2999SerfsTer7
XR_001743469.1:n.11132del
XR_001744157.1:n.3145+6899del
XR_926870.2:n.3145+6899del
XR_926871.2:n.3013+6899del
XR_926872.2:n.3145+6899del
NM_138694.4:c.10856del MANE Select	NP_619639.3:p.Lys3619SerfsTer7