Canonical Allele Identifier: CA16041066
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370711
ClinVar RCV Id: RCV000409321
dbSNP Id: rs1057516709
MyVariant Identifiers: chr6:g.51910804del (hg19) chr6:g.52046006del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52046006del , CM000668.2:g.52046006del GRCh38
NC_000006.11:g.51910804del , CM000668.1:g.51910804del GRCh37
NC_000006.10:g.52018763del NCBI36
NG_008753.1:g.46620del

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.2590del MANE Select ENSP00000360158.3:p.Arg864GlyfsTer10
ENST00000340994.4:c.2590del ENSP00000341097.4:p.Arg864GlyfsTer10
ENST00000371117.7:c.2590del ENSP00000360158.3:p.Arg864GlyfsTer10
NM_138694.3:c.2590del NP_619639.3:p.Arg864GlyfsTer10
NM_170724.2:c.2590del NP_733842.2:p.Arg864GlyfsTer10
XM_011514679.1:c.2590del XP_011512981.1:p.Arg864GlyfsTer10
XM_011514680.1:c.2590del XP_011512982.1:p.Arg864GlyfsTer10
XM_011514681.1:c.2590del XP_011512983.1:p.Arg864GlyfsTer10
XM_011514682.1:c.2590del XP_011512984.1:p.Arg864GlyfsTer10
XM_011514683.1:c.2590del XP_011512985.1:p.Arg864GlyfsTer10
XM_011514684.1:c.1879del XP_011512986.1:p.Arg627GlyfsTer10
XM_011514685.1:c.2590del XP_011512987.1:p.Arg864GlyfsTer10
XM_011514686.1:c.2590del XP_011512988.1:p.Arg864GlyfsTer10
XM_011514687.1:c.2590del XP_011512989.1:p.Arg864GlyfsTer10
XM_011514688.1:c.2590del XP_011512990.1:p.Arg864GlyfsTer10
XM_011514689.1:c.2590del XP_011512991.1:p.Arg864GlyfsTer10
XM_011514680.3:c.2590del XP_011512982.1:p.Arg864GlyfsTer10
XM_011514682.3:c.2590del XP_011512984.1:p.Arg864GlyfsTer10
XM_011514683.3:c.2590del XP_011512985.1:p.Arg864GlyfsTer10
XM_011514684.3:c.1879del XP_011512986.1:p.Arg627GlyfsTer10
XM_011514686.2:c.2590del XP_011512988.1:p.Arg864GlyfsTer10
XM_011514688.2:c.2590del XP_011512990.1:p.Arg864GlyfsTer10
XM_017010944.2:c.2590del XP_016866433.1:p.Arg864GlyfsTer10
XM_017010945.2:c.2515del XP_016866434.1:p.Arg839GlyfsTer10
XM_017010946.2:c.2590del XP_016866435.1:p.Arg864GlyfsTer10
XM_017010947.2:c.2590del XP_016866436.1:p.Arg864GlyfsTer10
XM_017010948.2:c.1879del XP_016866437.1:p.Arg627GlyfsTer10
XM_017010949.2:c.730del XP_016866438.1:p.Arg244GlyfsTer10
XM_017010950.1:c.2590del XP_016866439.1:p.Arg864GlyfsTer10
XM_017010951.1:c.2590del XP_016866440.1:p.Arg864GlyfsTer10
XM_017010952.1:c.2590del XP_016866441.1:p.Arg864GlyfsTer10
XR_001743469.1:n.2866del
NM_138694.4:c.2590del MANE Select NP_619639.3:p.Arg864GlyfsTer10
NM_170724.3:c.2590del NP_733842.2:p.Arg864GlyfsTer10
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