Canonical Allele Identifier: CA275217
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196878
ClinVar RCV Id: RCV000177755
dbSNP Id: rs794727572
MyVariant Identifiers: chr6:g.51887653_51887654del (hg19) chr6:g.51887653_51887654delCT (hg19) chr6:g.52022855_52022856del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52022856_52022857del , CM000668.2:g.52022856_52022857del GRCh38
NC_000006.11:g.51887654_51887655del , CM000668.1:g.51887654_51887655del GRCh37
NC_000006.10:g.51995613_51995614del NCBI36
NG_008753.1:g.69770_69771del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.5325_5326del MANE Select ENSP00000360158.3:p.Val1776ProfsTer3
ENST00000340994.4:c.5325_5326del ENSP00000341097.4:p.Val1776ProfsTer3
ENST00000371117.7:c.5325_5326del ENSP00000360158.3:p.Val1776ProfsTer3
NM_138694.3:c.5325_5326del NP_619639.3:p.Val1776ProfsTer3
NM_170724.2:c.5325_5326del NP_733842.2:p.Val1776ProfsTer3
XM_011514679.1:c.5325_5326del XP_011512981.1:p.Val1776ProfsTer3
XM_011514680.1:c.5325_5326del XP_011512982.1:p.Val1776ProfsTer3
XM_011514681.1:c.5325_5326del XP_011512983.1:p.Val1776ProfsTer3
XM_011514682.1:c.5325_5326del XP_011512984.1:p.Val1776ProfsTer3
XM_011514683.1:c.4683_4684del XP_011512985.1:p.Val1562ProfsTer3
XM_011514684.1:c.4614_4615del XP_011512986.1:p.Val1539ProfsTer3
XM_011514685.1:c.5325_5326del XP_011512987.1:p.Val1776ProfsTer3
XM_011514686.1:c.5325_5326del XP_011512988.1:p.Val1776ProfsTer3
XM_011514687.1:c.5325_5326del XP_011512989.1:p.Val1776ProfsTer3
XM_011514688.1:c.5325_5326del XP_011512990.1:p.Val1776ProfsTer3
XM_011514689.1:c.5325_5326del XP_011512991.1:p.Val1776ProfsTer3
XM_011514680.3:c.5325_5326del XP_011512982.1:p.Val1776ProfsTer3
XM_011514682.3:c.5325_5326del XP_011512984.1:p.Val1776ProfsTer3
XM_011514683.3:c.4683_4684del XP_011512985.1:p.Val1562ProfsTer3
XM_011514684.3:c.4614_4615del XP_011512986.1:p.Val1539ProfsTer3
XM_011514686.2:c.5325_5326del XP_011512988.1:p.Val1776ProfsTer3
XM_011514688.2:c.5325_5326del XP_011512990.1:p.Val1776ProfsTer3
XM_017010944.2:c.5325_5326del XP_016866433.1:p.Val1776ProfsTer3
XM_017010945.2:c.5250_5251del XP_016866434.1:p.Val1751ProfsTer3
XM_017010946.2:c.5325_5326del XP_016866435.1:p.Val1776ProfsTer3
XM_017010947.2:c.5061_5062del XP_016866436.1:p.Val1688ProfsTer3
XM_017010948.2:c.4614_4615del XP_016866437.1:p.Val1539ProfsTer3
XM_017010949.2:c.3465_3466del XP_016866438.1:p.Val1156ProfsTer3
XM_017010950.1:c.5325_5326del XP_016866439.1:p.Val1776ProfsTer3
XM_017010951.1:c.5325_5326del XP_016866440.1:p.Val1776ProfsTer3
XM_017010952.1:c.5325_5326del XP_016866441.1:p.Val1776ProfsTer3
XR_001743469.1:n.5601_5602del
NM_138694.4:c.5325_5326del MANE Select NP_619639.3:p.Val1776ProfsTer3
NM_170724.3:c.5325_5326del NP_733842.2:p.Val1776ProfsTer3
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