Canonical Allele Identifier: CA658821795

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 556510
• ClinVar RCV Id: RCV000672529
• dbSNP Id: rs1554218519
• MyVariant Identifiers: chr6:g.51748085_51748086dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748085_51748086dup , CM000668.2:g.51748085_51748086dup	GRCh38
NC_000006.11:g.51612883_51612884dup , CM000668.1:g.51612883_51612884dup	GRCh37
NC_000006.10:g.51720842_51720843dup	NCBI36
NG_008753.1:g.344540_344541dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9530_9531dup MANE Select	ENSP00000360158.3:p.Gly3178LeufsTer6
ENST00000340994.4:c.9530_9531dup	ENSP00000341097.4:p.Gly3178LeufsTer6
ENST00000371117.7:c.9530_9531dup	ENSP00000360158.3:p.Gly3178LeufsTer6
NM_138694.3:c.9530_9531dup	NP_619639.3:p.Gly3178LeufsTer6
NM_170724.2:c.9530_9531dup	NP_733842.2:p.Gly3178LeufsTer6
XM_011514679.1:c.9530_9531dup	XP_011512981.1:p.Gly3178LeufsTer6
XM_011514680.1:c.9530_9531dup	XP_011512982.1:p.Gly3178LeufsTer6
XM_011514681.1:c.9401_9402dup	XP_011512983.1:p.Gly3135LeufsTer6
XM_011514682.1:c.9392_9393dup	XP_011512984.1:p.Gly3132LeufsTer6
XM_011514683.1:c.8888_8889dup	XP_011512985.1:p.Gly2964LeufsTer6
XM_011514684.1:c.8819_8820dup	XP_011512986.1:p.Gly2941LeufsTer6
XM_011514685.1:c.9530_9531dup	XP_011512987.1:p.Gly3178LeufsTer6
XM_011514686.1:c.9530_9531dup	XP_011512988.1:p.Gly3178LeufsTer6
XM_011514687.1:c.9530_9531dup	XP_011512989.1:p.Gly3178LeufsTer6
XM_011514688.1:c.9530_9531dup	XP_011512990.1:p.Gly3178LeufsTer6
XM_011514690.1:c.3605_3606dup	XP_011512992.1:p.Gly1203LeufsTer6
XM_011514691.1:c.3605_3606dup	XP_011512993.1:p.Gly1203LeufsTer6
XM_011514680.3:c.9530_9531dup	XP_011512982.1:p.Gly3178LeufsTer6
XM_011514682.3:c.9392_9393dup	XP_011512984.1:p.Gly3132LeufsTer6
XM_011514683.3:c.8888_8889dup	XP_011512985.1:p.Gly2964LeufsTer6
XM_011514684.3:c.8819_8820dup	XP_011512986.1:p.Gly2941LeufsTer6
XM_011514686.2:c.9530_9531dup	XP_011512988.1:p.Gly3178LeufsTer6
XM_011514688.2:c.9530_9531dup	XP_011512990.1:p.Gly3178LeufsTer6
XM_011514690.3:c.3605_3606dup	XP_011512992.1:p.Gly1203LeufsTer6
XM_011514691.3:c.3605_3606dup	XP_011512993.1:p.Gly1203LeufsTer6
XM_017010944.2:c.9530_9531dup	XP_016866433.1:p.Gly3178LeufsTer6
XM_017010945.2:c.9455_9456dup	XP_016866434.1:p.Gly3153LeufsTer6
XM_017010946.2:c.9335_9336dup	XP_016866435.1:p.Gly3113LeufsTer6
XM_017010947.2:c.9266_9267dup	XP_016866436.1:p.Gly3090LeufsTer6
XM_017010948.2:c.8819_8820dup	XP_016866437.1:p.Gly2941LeufsTer6
XM_017010949.2:c.7670_7671dup	XP_016866438.1:p.Gly2558LeufsTer6
XM_017010950.1:c.9530_9531dup	XP_016866439.1:p.Gly3178LeufsTer6
XR_001743469.1:n.9806_9807dup
NM_138694.4:c.9530_9531dup MANE Select	NP_619639.3:p.Gly3178LeufsTer6
NM_170724.3:c.9530_9531dup	NP_733842.2:p.Gly3178LeufsTer6