Canonical Allele Identifier: CA2695215843
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092503del , CM000673.2:g.119092503del GRCh38
NC_000011.9:g.118963213del , CM000673.1:g.118963213del GRCh37
NC_000011.8:g.118468423del NCBI36
NG_008093.1:g.12627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.586del ENSP00000509288.1:p.Arg196GlyfsTer4
ENST00000691144.1:n.2732del
ENST00000691249.1:n.1575del
ENST00000442944.7:c.733del ENSP00000392041.3:p.Arg245GlyfsTer4
ENST00000640813.1:c.561del ENSP00000491061.1:p.Pro189LeufsTer?
ENST00000648026.1:c.645del ENSP00000498044.1:p.Pro217LeufsTer?
ENST00000648374.1:c.700del ENSP00000497255.1:p.Arg234GlyfsTer4
ENST00000649823.1:n.1208del
ENST00000650101.1:c.682del ENSP00000496970.1:p.Arg228GlyfsTer4
ENST00000650307.1:n.1577del
ENST00000652429.1:c.751del MANE Select ENSP00000498786.1:p.Arg251GlyfsTer4
ENST00000278715.7:c.751del ENSP00000278715.3:p.Arg251GlyfsTer4
ENST00000392841.1:c.700del ENSP00000376584.1:p.Arg234GlyfsTer4
ENST00000442944.6:c.700del ENSP00000392041.2:p.Arg234GlyfsTer4
ENST00000537841.5:c.700del ENSP00000444730.1:p.Arg234GlyfsTer4
ENST00000542044.5:n.1196del
ENST00000542729.5:c.601-255del ENSP00000443058.1:n.601-255del
ENST00000543090.5:c.658del ENSP00000445429.1:p.Arg220GlyfsTer4
ENST00000543543.5:n.1226del
ENST00000544182.1:n.966del
ENST00000544387.5:c.652-255del ENSP00000438424.1:n.652-255del
ENST00000546226.5:n.1279del
NM_000190.3:c.751del NP_000181.2:p.Arg251GlyfsTer4
NM_001024382.1:c.700del NP_001019553.1:p.Arg234GlyfsTer4
NM_001258208.1:c.652-255del NP_001245137.1:n.652-255del
NM_001258209.1:c.601-255del NP_001245138.1:n.601-255del
XM_005271531.1:c.700del XP_005271588.1:p.Arg234GlyfsTer4
XM_005271532.1:c.700del XP_005271589.1:p.Arg234GlyfsTer4
XM_005271533.2:c.697del XP_005271590.1:p.Arg233GlyfsTer4
XM_011542796.1:c.586del XP_011541098.1:p.Arg196GlyfsTer4
NM_000190.4:c.751del MANE Select NP_000181.2:p.Arg251GlyfsTer4
NM_001024382.2:c.700del NP_001019553.1:p.Arg234GlyfsTer4
XM_005271533.3:c.697del XP_005271590.1:p.Arg233GlyfsTer4
XM_017017629.1:c.700del XP_016873118.1:p.Arg234GlyfsTer4
XM_024448460.1:c.598-255del XP_024304228.1:n.598-255del
NM_001258208.2:c.652-255del NP_001245137.1:n.652-255del
NM_001258209.2:c.601-255del NP_001245138.1:n.601-255del