Canonical Allele Identifier: CA473369585
Gene: HPS5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.18306944del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18285398del , CM000673.2:g.18285398del GRCh38
NC_000011.9:g.18306945del , CM000673.1:g.18306945del GRCh37
NC_000011.8:g.18263521del NCBI36
NG_008877.1:g.41778del , LRG_586:g.41778del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349215.8:c.2900del MANE Select ENSP00000265967.5:p.Pro967LeufsTer5
ENST00000349215.7:c.2900del ENSP00000265967.5:p.Pro967LeufsTer5
ENST00000352460.7:n.1228+1194del
ENST00000396253.7:c.2558del ENSP00000379552.3:p.Pro853LeufsTer5
ENST00000438420.6:c.2558del ENSP00000399590.2:p.Pro853LeufsTer5
ENST00000537258.1:c.221del ENSP00000437437.1:p.Pro74LeufsTer5
ENST00000544218.5:c.458del ENSP00000441781.1:p.Pro153LeufsTer5
ENST00000545561.1:n.961del
NM_007216.3:c.2558del NP_009147.3:p.Pro853LeufsTer5
NM_181507.1:c.2900del , LRG_586t1:c.2900del NP_852608.1:p.Pro967LeufsTer5
NM_181508.1:c.2558del NP_852609.1:p.Pro853LeufsTer5
XM_011519862.1:c.2900del XP_011518164.1:p.Pro967LeufsTer5
XM_011519863.1:c.2900del XP_011518165.1:p.Pro967LeufsTer5
XM_011519864.1:c.2900del XP_011518166.1:p.Pro967LeufsTer5
XM_011519865.1:c.2789del XP_011518167.1:p.Pro930LeufsTer5
XM_011519866.1:c.2558del XP_011518168.1:p.Pro853LeufsTer5
XM_011519867.1:c.2558del XP_011518169.1:p.Pro853LeufsTer5
XM_011519868.1:c.2558del XP_011518170.1:p.Pro853LeufsTer5
XM_011519869.1:c.2900del XP_011518171.1:p.Pro967LeufsTer5
XM_011519868.3:c.2558del XP_011518170.1:p.Pro853LeufsTer5
XM_017017149.1:c.2900del XP_016872638.1:p.Pro967LeufsTer5
XM_017017150.1:c.2900del XP_016872639.1:p.Pro967LeufsTer5
XM_017017151.2:c.2789del XP_016872640.1:p.Pro930LeufsTer5
XM_017017152.1:c.2789del XP_016872641.1:p.Pro930LeufsTer5
XM_017017153.2:c.2789del XP_016872642.1:p.Pro930LeufsTer5
XM_017017154.1:c.2558del XP_016872643.1:p.Pro853LeufsTer5
XR_001747750.1:n.3169del
XR_001747751.1:n.3169del
XR_001747752.1:n.2925del
XR_001747753.1:n.3042del
XR_001747754.2:n.2566del
XR_001747755.2:n.2488del
XR_001747756.2:n.2501del
NM_007216.4:c.2558del NP_009147.3:p.Pro853LeufsTer5
NM_181507.2:c.2900del MANE Select NP_852608.1:p.Pro967LeufsTer5