Canonical Allele Identifier: CA340039
Gene: HPS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3152
ClinVar RCV Id: RCV000003302
dbSNP Id: rs281865103

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18291856_18291859del , CM000673.2:g.18291856_18291859del GRCh38
NC_000011.9:g.18313403_18313406del , CM000673.1:g.18313403_18313406del GRCh37
NC_000011.8:g.18269979_18269982del NCBI36
NG_008877.1:g.35319_35322del , LRG_586:g.35319_35322del

Transcript Alleles

HGVS Amino-acid change
ENST00000349215.8:c.2026_2029del MANE Select ENSP00000265967.5:p.Val676MetfsTer8
ENST00000349215.7:c.2026_2029del ENSP00000265967.5:p.Val676MetfsTer8
ENST00000352460.7:n.417_420del
ENST00000396253.7:c.1684_1687del ENSP00000379552.3:p.Val562MetfsTer8
ENST00000438420.6:c.1684_1687del ENSP00000399590.2:p.Val562MetfsTer8
ENST00000543728.1:n.197+3164_197+3167del
ENST00000544218.5:c.-3+1043_-3+1046del ENSP00000441781.1:n.-3+1043_-3+1046del
ENST00000545561.1:n.87_90del
NM_007216.3:c.1684_1687del NP_009147.3:p.Val562MetfsTer8
NM_181507.1:c.2026_2029del , LRG_586t1:c.2026_2029del NP_852608.1:p.Val676MetfsTer8
NM_181508.1:c.1684_1687del NP_852609.1:p.Val562MetfsTer8
XM_011519862.1:c.2026_2029del XP_011518164.1:p.Val676MetfsTer8
XM_011519863.1:c.2026_2029del XP_011518165.1:p.Val676MetfsTer8
XM_011519864.1:c.2026_2029del XP_011518166.1:p.Val676MetfsTer8
XM_011519865.1:c.1915_1918del XP_011518167.1:p.Val639MetfsTer8
XM_011519866.1:c.1684_1687del XP_011518168.1:p.Val562MetfsTer8
XM_011519867.1:c.1684_1687del XP_011518169.1:p.Val562MetfsTer8
XM_011519868.1:c.1684_1687del XP_011518170.1:p.Val562MetfsTer8
XM_011519869.1:c.2026_2029del XP_011518171.1:p.Val676MetfsTer8
XM_011519870.1:c.1862+1043_1862+1046del XP_011518172.1:n.1862+1043_1862+1046del
XM_011519871.1:c.1784+3164_1784+3167del XP_011518173.1:n.1784+3164_1784+3167del
XM_011519868.3:c.1684_1687del XP_011518170.1:p.Val562MetfsTer8
XM_017017149.1:c.2026_2029del XP_016872638.1:p.Val676MetfsTer8
XM_017017150.1:c.2026_2029del XP_016872639.1:p.Val676MetfsTer8
XM_017017151.2:c.1915_1918del XP_016872640.1:p.Val639MetfsTer8
XM_017017152.1:c.1915_1918del XP_016872641.1:p.Val639MetfsTer8
XM_017017153.2:c.1915_1918del XP_016872642.1:p.Val639MetfsTer8
XM_017017154.1:c.1684_1687del XP_016872643.1:p.Val562MetfsTer8
XR_001747750.1:n.2295_2298del
XR_001747751.1:n.2295_2298del
XR_001747752.1:n.2051_2054del
XR_001747753.1:n.2168_2171del
XR_001747754.2:n.2106+1043_2106+1046del
XR_001747755.2:n.2028+3164_2028+3167del
XR_001747756.2:n.2041+3164_2041+3167del
NM_007216.4:c.1684_1687del NP_009147.3:p.Val562MetfsTer8
NM_181507.2:c.2026_2029del MANE Select NP_852608.1:p.Val676MetfsTer8