Canonical Allele Identifier: CA2695215746
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119089707del , CM000673.2:g.119089707del GRCh38
NC_000011.9:g.118960417del , CM000673.1:g.118960417del GRCh37
NC_000011.8:g.118465627del NCBI36
NG_008093.1:g.9831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.126del ENSP00000509288.1:p.Lys43ArgfsTer?
ENST00000686690.1:n.912del
ENST00000691144.1:n.2032del
ENST00000691249.1:n.875del
ENST00000442944.7:c.273del ENSP00000392041.3:p.Lys92ArgfsTer?
ENST00000534956.2:n.240del
ENST00000536813.6:c.240del ENSP00000438726.2:p.Lys81ArgfsTer?
ENST00000546302.6:c.267-283del ENSP00000445599.1:n.267-283del
ENST00000640813.1:c.240del ENSP00000491061.1:p.Lys81ArgfsTer?
ENST00000648026.1:c.285del ENSP00000498044.1:p.Lys96ArgfsTer?
ENST00000648374.1:c.240del ENSP00000497255.1:p.Lys81ArgfsTer?
ENST00000648488.1:c.240del ENSP00000498079.1:p.Lys81ArgfsTer?
ENST00000649823.1:n.508del
ENST00000649868.1:c.146del ENSP00000497548.1:p.Ter49=
ENST00000650101.1:c.222del ENSP00000496970.1:p.Lys75ArgfsTer?
ENST00000650307.1:n.1117del
ENST00000652429.1:c.291del MANE Select ENSP00000498786.1:p.Lys98ArgfsTer?
ENST00000278715.7:c.291del ENSP00000278715.3:p.Lys98ArgfsTer?
ENST00000392841.1:c.240del ENSP00000376584.1:p.Lys81ArgfsTer?
ENST00000442944.6:c.240del ENSP00000392041.2:p.Lys81ArgfsTer?
ENST00000534956.1:n.207del
ENST00000535253.5:c.240del ENSP00000442079.1:p.Lys81ArgfsTer?
ENST00000535793.5:c.*186del ENSP00000439904.1:n.*186del
ENST00000536185.5:n.409del
ENST00000536813.5:c.273del ENSP00000438726.1:p.Lys92ArgfsTer?
ENST00000537841.5:c.240del ENSP00000444730.1:p.Lys81ArgfsTer?
ENST00000539986.5:c.240del ENSP00000440092.1:p.Lys81ArgfsTer?
ENST00000542044.5:n.736del
ENST00000542345.5:n.429del
ENST00000542729.5:c.240del ENSP00000443058.1:p.Lys81ArgfsTer?
ENST00000542822.5:c.*227del ENSP00000444817.1:n.*227del
ENST00000543090.5:c.237del ENSP00000445429.1:p.Lys80ArgfsTer?
ENST00000543543.5:n.526del
ENST00000543821.5:n.437del
ENST00000544360.5:n.259del
ENST00000544387.5:c.291del ENSP00000438424.1:p.Lys98ArgfsTer?
ENST00000545621.5:c.*186del ENSP00000444849.1:n.*186del
ENST00000546226.5:n.350del
ENST00000546302.5:c.267-283del ENSP00000445599.1:n.267-283del
NM_000190.3:c.291del NP_000181.2:p.Lys98ArgfsTer?
NM_001024382.1:c.240del NP_001019553.1:p.Lys81ArgfsTer?
NM_001258208.1:c.291del NP_001245137.1:p.Lys98ArgfsTer?
NM_001258209.1:c.240del NP_001245138.1:p.Lys81ArgfsTer?
XM_005271531.1:c.240del XP_005271588.1:p.Lys81ArgfsTer?
XM_005271532.1:c.240del XP_005271589.1:p.Lys81ArgfsTer?
XM_005271533.2:c.237del XP_005271590.1:p.Lys80ArgfsTer?
XM_011542796.1:c.126del XP_011541098.1:p.Lys43ArgfsTer?
NM_000190.4:c.291del MANE Select NP_000181.2:p.Lys98ArgfsTer?
NM_001024382.2:c.240del NP_001019553.1:p.Lys81ArgfsTer?
XM_005271533.3:c.237del XP_005271590.1:p.Lys80ArgfsTer?
XM_017017629.1:c.240del XP_016873118.1:p.Lys81ArgfsTer?
XM_024448460.1:c.237del XP_024304228.1:p.Lys80ArgfsTer?
NM_001258208.2:c.291del NP_001245137.1:p.Lys98ArgfsTer?
NM_001258209.2:c.240del NP_001245138.1:p.Lys81ArgfsTer?