Canonical Allele Identifier: CA917748341

Gene: PKHD1

Linked Data

• dbSNP Id: rs1562163265
• gnomAD v4: 6-52025165-A-AGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52025167_52025169dup , CM000668.2:g.52025167_52025169dup	GRCh38
NC_000006.11:g.51889965_51889967dup , CM000668.1:g.51889965_51889967dup	GRCh37
NC_000006.10:g.51997924_51997926dup	NCBI36
NG_008753.1:g.67458_67460dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.4642_4644dup MANE Select	ENSP00000360158.3:p.His1548_Tyr1549insHis
ENST00000340994.4:c.4642_4644dup	ENSP00000341097.4:p.His1548_Tyr1549insHis
ENST00000371117.7:c.4642_4644dup	ENSP00000360158.3:p.His1548_Tyr1549insHis
NM_138694.3:c.4642_4644dup	NP_619639.3:p.His1548_Tyr1549insHis
NM_170724.2:c.4642_4644dup	NP_733842.2:p.His1548_Tyr1549insHis
XM_011514679.1:c.4642_4644dup	XP_011512981.1:p.His1548_Tyr1549insHis
XM_011514680.1:c.4642_4644dup	XP_011512982.1:p.His1548_Tyr1549insHis
XM_011514681.1:c.4642_4644dup	XP_011512983.1:p.His1548_Tyr1549insHis
XM_011514682.1:c.4642_4644dup	XP_011512984.1:p.His1548_Tyr1549insHis
XM_011514683.1:c.4102-102_4102-100dup	XP_011512985.1:n.4102-102_4102-100dup
XM_011514684.1:c.3931_3933dup	XP_011512986.1:p.His1311_Tyr1312insHis
XM_011514685.1:c.4642_4644dup	XP_011512987.1:p.His1548_Tyr1549insHis
XM_011514686.1:c.4642_4644dup	XP_011512988.1:p.His1548_Tyr1549insHis
XM_011514687.1:c.4642_4644dup	XP_011512989.1:p.His1548_Tyr1549insHis
XM_011514688.1:c.4642_4644dup	XP_011512990.1:p.His1548_Tyr1549insHis
XM_011514689.1:c.4642_4644dup	XP_011512991.1:p.His1548_Tyr1549insHis
XM_011514680.3:c.4642_4644dup	XP_011512982.1:p.His1548_Tyr1549insHis
XM_011514682.3:c.4642_4644dup	XP_011512984.1:p.His1548_Tyr1549insHis
XM_011514683.3:c.4102-102_4102-100dup	XP_011512985.1:n.4102-102_4102-100dup
XM_011514684.3:c.3931_3933dup	XP_011512986.1:p.His1311_Tyr1312insHis
XM_011514686.2:c.4642_4644dup	XP_011512988.1:p.His1548_Tyr1549insHis
XM_011514688.2:c.4642_4644dup	XP_011512990.1:p.His1548_Tyr1549insHis
XM_017010944.2:c.4642_4644dup	XP_016866433.1:p.His1548_Tyr1549insHis
XM_017010945.2:c.4567_4569dup	XP_016866434.1:p.His1523_Tyr1524insHis
XM_017010946.2:c.4642_4644dup	XP_016866435.1:p.His1548_Tyr1549insHis
XM_017010947.2:c.4378_4380dup	XP_016866436.1:p.His1460_Tyr1461insHis
XM_017010948.2:c.3931_3933dup	XP_016866437.1:p.His1311_Tyr1312insHis
XM_017010949.2:c.2782_2784dup	XP_016866438.1:p.His928_Tyr929insHis
XM_017010950.1:c.4642_4644dup	XP_016866439.1:p.His1548_Tyr1549insHis
XM_017010951.1:c.4642_4644dup	XP_016866440.1:p.His1548_Tyr1549insHis
XM_017010952.1:c.4642_4644dup	XP_016866441.1:p.His1548_Tyr1549insHis
XR_001743469.1:n.4918_4920dup
NM_138694.4:c.4642_4644dup MANE Select	NP_619639.3:p.His1548_Tyr1549insHis
NM_170724.3:c.4642_4644dup	NP_733842.2:p.His1548_Tyr1549insHis