Canonical Allele Identifier: CA342558
Gene: HPS5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18305442dup , CM000673.2:g.18305442dup GRCh38
NC_000011.9:g.18326989dup , CM000673.1:g.18326989dup GRCh37
NC_000011.8:g.18283565dup NCBI36
NG_008877.1:g.21736dup , LRG_586:g.21736dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349215.8:c.879dup MANE Select ENSP00000265967.5:p.Lys294GlnfsTer6
ENST00000349215.7:c.879dup ENSP00000265967.5:p.Lys294GlnfsTer6
ENST00000396253.7:c.537dup ENSP00000379552.3:p.Lys180GlnfsTer6
ENST00000438420.6:c.537dup ENSP00000399590.2:p.Lys180GlnfsTer6
ENST00000531848.1:c.537dup ENSP00000431758.1:p.Lys180GlnfsTer6
NM_007216.3:c.537dup NP_009147.3:p.Lys180GlnfsTer6
NM_181507.1:c.879dup , LRG_586t1:c.879dup NP_852608.1:p.Lys294GlnfsTer6
NM_181508.1:c.537dup NP_852609.1:p.Lys180GlnfsTer6
XM_011519862.1:c.879dup XP_011518164.1:p.Lys294GlnfsTer6
XM_011519863.1:c.879dup XP_011518165.1:p.Lys294GlnfsTer6
XM_011519864.1:c.879dup XP_011518166.1:p.Lys294GlnfsTer6
XM_011519865.1:c.768dup XP_011518167.1:p.Lys257GlnfsTer6
XM_011519866.1:c.537dup XP_011518168.1:p.Lys180GlnfsTer6
XM_011519867.1:c.537dup XP_011518169.1:p.Lys180GlnfsTer6
XM_011519868.1:c.537dup XP_011518170.1:p.Lys180GlnfsTer6
XM_011519869.1:c.879dup XP_011518171.1:p.Lys294GlnfsTer6
XM_011519870.1:c.879dup XP_011518172.1:p.Lys294GlnfsTer6
XM_011519871.1:c.879dup XP_011518173.1:p.Lys294GlnfsTer6
XM_011519868.3:c.537dup XP_011518170.1:p.Lys180GlnfsTer6
XM_017017149.1:c.879dup XP_016872638.1:p.Lys294GlnfsTer6
XM_017017150.1:c.879dup XP_016872639.1:p.Lys294GlnfsTer6
XM_017017151.2:c.768dup XP_016872640.1:p.Lys257GlnfsTer6
XM_017017152.1:c.768dup XP_016872641.1:p.Lys257GlnfsTer6
XM_017017153.2:c.768dup XP_016872642.1:p.Lys257GlnfsTer6
XM_017017154.1:c.537dup XP_016872643.1:p.Lys180GlnfsTer6
XR_001747750.1:n.1148dup
XR_001747751.1:n.1148dup
XR_001747752.1:n.904dup
XR_001747753.1:n.1021dup
XR_001747754.2:n.1123dup
XR_001747755.2:n.1123dup
XR_001747756.2:n.1136dup
NM_007216.4:c.537dup NP_009147.3:p.Lys180GlnfsTer6
NM_181507.2:c.879dup MANE Select NP_852608.1:p.Lys294GlnfsTer6