Canonical Allele Identifier: CA2697553456

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2690676
• ClinVar RCV Id: RCV003493243

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627013_51627014dup , CM000668.2:g.51627013_51627014dup	GRCh38
NC_000006.11:g.51491811_51491812dup , CM000668.1:g.51491811_51491812dup	GRCh37
NC_000006.10:g.51599770_51599771dup	NCBI36
NG_008753.1:g.465614_465615dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11770_11771dup MANE Select	ENSP00000360158.3:p.Val3925LeufsTer7
ENST00000371117.7:c.11770_11771dup	ENSP00000360158.3:p.Val3925LeufsTer7
NM_138694.3:c.11770_11771dup	NP_619639.3:p.Val3925LeufsTer7
XM_011514679.1:c.11770_11771dup	XP_011512981.1:p.Val3925LeufsTer7
XM_011514680.1:c.11770_11771dup	XP_011512982.1:p.Val3925LeufsTer7
XM_011514681.1:c.11641_11642dup	XP_011512983.1:p.Val3882LeufsTer7
XM_011514682.1:c.11632_11633dup	XP_011512984.1:p.Val3879LeufsTer7
XM_011514683.1:c.11128_11129dup	XP_011512985.1:p.Val3711LeufsTer7
XM_011514684.1:c.11059_11060dup	XP_011512986.1:p.Val3688LeufsTer7
XM_011514690.1:c.5845_5846dup	XP_011512992.1:p.Val1950LeufsTer7
XM_011514691.1:c.5845_5846dup	XP_011512993.1:p.Val1950LeufsTer7
XM_011514680.3:c.11770_11771dup	XP_011512982.1:p.Val3925LeufsTer7
XM_011514682.3:c.11632_11633dup	XP_011512984.1:p.Val3879LeufsTer7
XM_011514683.3:c.11128_11129dup	XP_011512985.1:p.Val3711LeufsTer7
XM_011514684.3:c.11059_11060dup	XP_011512986.1:p.Val3688LeufsTer7
XM_011514690.3:c.5845_5846dup	XP_011512992.1:p.Val1950LeufsTer7
XM_011514691.3:c.5845_5846dup	XP_011512993.1:p.Val1950LeufsTer7
XM_017010944.2:c.11770_11771dup	XP_016866433.1:p.Val3925LeufsTer7
XM_017010945.2:c.11695_11696dup	XP_016866434.1:p.Val3900LeufsTer7
XM_017010946.2:c.11575_11576dup	XP_016866435.1:p.Val3860LeufsTer7
XM_017010947.2:c.11506_11507dup	XP_016866436.1:p.Val3837LeufsTer7
XM_017010948.2:c.11059_11060dup	XP_016866437.1:p.Val3688LeufsTer7
XM_017010949.2:c.9910_9911dup	XP_016866438.1:p.Val3305LeufsTer7
NM_138694.4:c.11770_11771dup MANE Select	NP_619639.3:p.Val3925LeufsTer7