Canonical Allele Identifier: CA16041026

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 371508
• ClinVar RCV Id: RCV000411488
• dbSNP Id: rs1057517326
• MyVariant Identifiers: chr6:g.51524463dupC (hg19) ; chr6:g.51524462_51524463insC (hg19) ; chr6:g.51659665dupC (hg38) ; chr6:g.51659664_51659665insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659668dup , CM000668.2:g.51659668dup	GRCh38
NC_000006.11:g.51524466dup , CM000668.1:g.51524466dup	GRCh37
NC_000006.10:g.51632425dup	NCBI36
NG_008753.1:g.432961dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10461dup MANE Select	ENSP00000360158.3:p.Asn3488GlufsTer15
ENST00000371117.7:c.10461dup	ENSP00000360158.3:p.Asn3488GlufsTer15
NM_138694.3:c.10461dup	NP_619639.3:p.Asn3488GlufsTer15
XM_011514679.1:c.10461dup	XP_011512981.1:p.Asn3488GlufsTer15
XM_011514680.1:c.10461dup	XP_011512982.1:p.Asn3488GlufsTer15
XM_011514681.1:c.10332dup	XP_011512983.1:p.Asn3445GlufsTer15
XM_011514682.1:c.10323dup	XP_011512984.1:p.Asn3442GlufsTer15
XM_011514683.1:c.9819dup	XP_011512985.1:p.Asn3274GlufsTer15
XM_011514684.1:c.9750dup	XP_011512986.1:p.Asn3251GlufsTer15
XM_011514687.1:c.10157-10445dup	XP_011512989.1:n.10157-10445dup
XM_011514690.1:c.4536dup	XP_011512992.1:p.Asn1513GlufsTer15
XM_011514691.1:c.4536dup	XP_011512993.1:p.Asn1513GlufsTer15
XR_926870.1:n.535+7295dup
XR_926871.1:n.403+7295dup
XR_926872.1:n.535+7295dup
XM_011514680.3:c.10461dup	XP_011512982.1:p.Asn3488GlufsTer15
XM_011514682.3:c.10323dup	XP_011512984.1:p.Asn3442GlufsTer15
XM_011514683.3:c.9819dup	XP_011512985.1:p.Asn3274GlufsTer15
XM_011514684.3:c.9750dup	XP_011512986.1:p.Asn3251GlufsTer15
XM_011514690.3:c.4536dup	XP_011512992.1:p.Asn1513GlufsTer15
XM_011514691.3:c.4536dup	XP_011512993.1:p.Asn1513GlufsTer15
XM_017010944.2:c.10461dup	XP_016866433.1:p.Asn3488GlufsTer15
XM_017010945.2:c.10386dup	XP_016866434.1:p.Asn3463GlufsTer15
XM_017010946.2:c.10266dup	XP_016866435.1:p.Asn3423GlufsTer15
XM_017010947.2:c.10197dup	XP_016866436.1:p.Asn3400GlufsTer15
XM_017010948.2:c.9750dup	XP_016866437.1:p.Asn3251GlufsTer15
XM_017010949.2:c.8601dup	XP_016866438.1:p.Asn2868GlufsTer15
XR_001743469.1:n.10737dup
XR_001744157.1:n.3145+7295dup
XR_926870.2:n.3145+7295dup
XR_926871.2:n.3013+7295dup
XR_926872.2:n.3145+7295dup
NM_138694.4:c.10461dup MANE Select	NP_619639.3:p.Asn3488GlufsTer15