Canonical Allele Identifier: CA915947800
Community Standard Title: NM_000190.4(HMBS):c.535del (p.Glu179SerfsTer?)
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119091449del , CM000673.2:g.119091449del GRCh38
NC_000011.9:g.118962159del , CM000673.1:g.118962159del GRCh37
NC_000011.8:g.118467369del NCBI36
NG_008093.1:g.11573del

Transcript Alleles

HGVS Amino-acid Change
NM_000190.4:c.535del MANE Select NP_000181.2:p.Glu179SerfsTer?
ENST00000652429.1:c.535del MANE Select ENSP00000498786.1:p.Glu179SerfsTer?
NM_000190.3:c.535del NP_000181.2:p.Glu179SerfsTer?
NM_001024382.1:c.484del NP_001019553.1:p.Glu162SerfsTer?
NM_001024382.2:c.484del NP_001019553.1:p.Glu162SerfsTer?
NM_001258208.1:c.535del NP_001245137.1:p.Glu179SerfsTer?
NM_001258208.2:c.535del NP_001245137.1:p.Glu179SerfsTer?
NM_001258209.1:c.484del NP_001245138.1:p.Glu162SerfsTer?
NM_001258209.2:c.484del NP_001245138.1:p.Glu162SerfsTer?
ENST00000278715.7:c.535del ENSP00000278715.3:p.Glu179SerfsTer?
ENST00000392841.1:c.484del ENSP00000376584.1:p.Glu162SerfsTer?
ENST00000442944.6:c.484del ENSP00000392041.2:p.Glu162SerfsTer?
ENST00000442944.7:c.517del ENSP00000392041.3:p.Glu173SerfsTer?
ENST00000534956.1:n.415-412del
ENST00000534956.2:n.448-412del
ENST00000535253.5:c.484del ENSP00000442079.1:p.Glu162SerfsTer?
ENST00000535793.5:c.*430del ENSP00000439904.1:n.*430del
ENST00000536813.6:c.484del ENSP00000438726.2:p.Glu162SerfsTer?
ENST00000537841.5:c.484del ENSP00000444730.1:p.Glu162SerfsTer?
ENST00000539986.5:c.484del ENSP00000440092.1:p.Glu162SerfsTer?
ENST00000542044.5:n.980del
ENST00000542345.5:n.673del
ENST00000542729.5:c.484del ENSP00000443058.1:p.Glu162SerfsTer?
ENST00000542822.5:c.*471del ENSP00000444817.1:n.*471del
ENST00000543090.5:c.481del ENSP00000445429.1:p.Glu161SerfsTer?
ENST00000543543.5:n.770del
ENST00000544360.5:n.503del
ENST00000544387.5:c.535del ENSP00000438424.1:p.Glu179SerfsTer?
ENST00000545621.5:c.*430del ENSP00000444849.1:n.*430del
ENST00000546226.5:n.823del
ENST00000546302.5:c.457del ENSP00000445599.1:p.Glu153SerfsTer?
ENST00000546302.6:c.457del ENSP00000445599.1:p.Glu153SerfsTer?
ENST00000640813.1:c.448-412del ENSP00000491061.1:n.448-412del
ENST00000648026.1:c.493-412del ENSP00000498044.1:n.493-412del
ENST00000648374.1:c.484del ENSP00000497255.1:p.Glu162SerfsTer?
ENST00000648488.1:c.*85+193del ENSP00000498079.1:n.*85+193del
ENST00000649823.1:n.752del
ENST00000649868.1:c.*207-412del ENSP00000497548.1:n.*207-412del
ENST00000650101.1:c.466del ENSP00000496970.1:p.Glu156SerfsTer?
ENST00000650307.1:n.1361del
ENST00000686218.1:c.370del ENSP00000509288.1:p.Glu124SerfsTer?
ENST00000686690.1:n.1385del
ENST00000691144.1:n.2276del
ENST00000691249.1:n.1119del
XM_005271531.1:c.484del XP_005271588.1:p.Glu162SerfsTer?
XM_005271532.1:c.484del XP_005271589.1:p.Glu162SerfsTer?
XM_005271533.2:c.481del XP_005271590.1:p.Glu161SerfsTer?
XM_005271533.3:c.481del XP_005271590.1:p.Glu161SerfsTer?
XM_011542796.1:c.370del XP_011541098.1:p.Glu124SerfsTer?
XM_017017629.1:c.484del XP_016873118.1:p.Glu162SerfsTer?
XM_024448460.1:c.481del XP_024304228.1:p.Glu161SerfsTer?