Canonical Allele Identifier: CA2573052706

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1300719
• ClinVar RCV Id: RCV001732608
• dbSNP Id: rs2151011995
• gnomAD v4: 6-51753321-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753322dup , CM000668.2:g.51753322dup	GRCh38
NC_000006.11:g.51618120dup , CM000668.1:g.51618120dup	GRCh37
NC_000006.10:g.51726079dup	NCBI36
NG_008753.1:g.339304dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.8829dup MANE Select	ENSP00000360158.3:p.Ile2944HisfsTer6
ENST00000340994.4:c.8829dup	ENSP00000341097.4:p.Ile2944HisfsTer6
ENST00000371117.7:c.8829dup	ENSP00000360158.3:p.Ile2944HisfsTer6
NM_138694.3:c.8829dup	NP_619639.3:p.Ile2944HisfsTer6
NM_170724.2:c.8829dup	NP_733842.2:p.Ile2944HisfsTer6
XM_011514679.1:c.8829dup	XP_011512981.1:p.Ile2944HisfsTer6
XM_011514680.1:c.8829dup	XP_011512982.1:p.Ile2944HisfsTer6
XM_011514681.1:c.8700dup	XP_011512983.1:p.Ile2901HisfsTer6
XM_011514682.1:c.8691dup	XP_011512984.1:p.Ile2898HisfsTer6
XM_011514683.1:c.8187dup	XP_011512985.1:p.Ile2730HisfsTer6
XM_011514684.1:c.8118dup	XP_011512986.1:p.Ile2707HisfsTer6
XM_011514685.1:c.8829dup	XP_011512987.1:p.Ile2944HisfsTer6
XM_011514686.1:c.8829dup	XP_011512988.1:p.Ile2944HisfsTer6
XM_011514687.1:c.8829dup	XP_011512989.1:p.Ile2944HisfsTer6
XM_011514688.1:c.8829dup	XP_011512990.1:p.Ile2944HisfsTer6
XM_011514690.1:c.2904dup	XP_011512992.1:p.Ile969HisfsTer6
XM_011514691.1:c.2904dup	XP_011512993.1:p.Ile969HisfsTer6
XM_011514680.3:c.8829dup	XP_011512982.1:p.Ile2944HisfsTer6
XM_011514682.3:c.8691dup	XP_011512984.1:p.Ile2898HisfsTer6
XM_011514683.3:c.8187dup	XP_011512985.1:p.Ile2730HisfsTer6
XM_011514684.3:c.8118dup	XP_011512986.1:p.Ile2707HisfsTer6
XM_011514686.2:c.8829dup	XP_011512988.1:p.Ile2944HisfsTer6
XM_011514688.2:c.8829dup	XP_011512990.1:p.Ile2944HisfsTer6
XM_011514690.3:c.2904dup	XP_011512992.1:p.Ile969HisfsTer6
XM_011514691.3:c.2904dup	XP_011512993.1:p.Ile969HisfsTer6
XM_017010944.2:c.8829dup	XP_016866433.1:p.Ile2944HisfsTer6
XM_017010945.2:c.8754dup	XP_016866434.1:p.Ile2919HisfsTer6
XM_017010946.2:c.8634dup	XP_016866435.1:p.Ile2879HisfsTer6
XM_017010947.2:c.8565dup	XP_016866436.1:p.Ile2856HisfsTer6
XM_017010948.2:c.8118dup	XP_016866437.1:p.Ile2707HisfsTer6
XM_017010949.2:c.6969dup	XP_016866438.1:p.Ile2324HisfsTer6
XM_017010950.1:c.8829dup	XP_016866439.1:p.Ile2944HisfsTer6
XM_017010951.1:c.*1433dup	XP_016866440.1:n.*1433dup
XR_001743469.1:n.9105dup
NM_138694.4:c.8829dup MANE Select	NP_619639.3:p.Ile2944HisfsTer6
NM_170724.3:c.8829dup	NP_733842.2:p.Ile2944HisfsTer6