Canonical Allele Identifier: CA2695215825
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092409_119092415del , CM000673.2:g.119092409_119092415del GRCh38
NC_000011.9:g.118963119_118963125del , CM000673.1:g.118963119_118963125del GRCh37
NC_000011.8:g.118468329_118468335del NCBI36
NG_008093.1:g.12533_12539del

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.492_498del ENSP00000509288.1:p.Leu165TrpfsTer?
ENST00000691144.1:n.2638_2644del
ENST00000691249.1:n.1481_1487del
ENST00000442944.7:c.639_645del ENSP00000392041.3:p.Leu214TrpfsTer?
ENST00000536813.6:c.606_612del ENSP00000438726.2:p.Leu203TrpfsTer?
ENST00000640813.1:c.467_473del ENSP00000491061.1:p.Pro156ArgfsTer29
ENST00000648026.1:c.551_557del ENSP00000498044.1:p.Pro184ArgfsTer29
ENST00000648374.1:c.606_612del ENSP00000497255.1:p.Leu203TrpfsTer?
ENST00000649823.1:n.1114_1120del
ENST00000650101.1:c.588_594del ENSP00000496970.1:p.Leu197TrpfsTer?
ENST00000650307.1:n.1483_1489del
ENST00000652429.1:c.657_663del MANE Select ENSP00000498786.1:p.Leu220TrpfsTer?
ENST00000278715.7:c.657_663del ENSP00000278715.3:p.Leu220TrpfsTer?
ENST00000392841.1:c.606_612del ENSP00000376584.1:p.Leu203TrpfsTer?
ENST00000442944.6:c.606_612del ENSP00000392041.2:p.Leu203TrpfsTer?
ENST00000537841.5:c.606_612del ENSP00000444730.1:p.Leu203TrpfsTer?
ENST00000542044.5:n.1102_1108del
ENST00000542729.5:c.600+246_600+252del ENSP00000443058.1:n.600+246_600+252del
ENST00000543090.5:c.564_570del ENSP00000445429.1:p.Leu189TrpfsTer?
ENST00000543543.5:n.1132_1138del
ENST00000544182.1:n.872_878del
ENST00000544387.5:c.651+246_651+252del ENSP00000438424.1:n.651+246_651+252del
ENST00000545621.5:c.*792_*798del ENSP00000444849.1:n.*792_*798del
ENST00000546226.5:n.1185_1191del
NM_000190.3:c.657_663del NP_000181.2:p.Leu220TrpfsTer?
NM_001024382.1:c.606_612del NP_001019553.1:p.Leu203TrpfsTer?
NM_001258208.1:c.651+246_651+252del NP_001245137.1:n.651+246_651+252del
NM_001258209.1:c.600+246_600+252del NP_001245138.1:n.600+246_600+252del
XM_005271531.1:c.606_612del XP_005271588.1:p.Leu203TrpfsTer?
XM_005271532.1:c.606_612del XP_005271589.1:p.Leu203TrpfsTer?
XM_005271533.2:c.603_609del XP_005271590.1:p.Leu202TrpfsTer?
XM_011542796.1:c.492_498del XP_011541098.1:p.Leu165TrpfsTer?
NM_000190.4:c.657_663del MANE Select NP_000181.2:p.Leu220TrpfsTer?
NM_001024382.2:c.606_612del NP_001019553.1:p.Leu203TrpfsTer?
XM_005271533.3:c.603_609del XP_005271590.1:p.Leu202TrpfsTer?
XM_017017629.1:c.606_612del XP_016873118.1:p.Leu203TrpfsTer?
XM_024448460.1:c.597+246_597+252del XP_024304228.1:n.597+246_597+252del
NM_001258208.2:c.651+246_651+252del NP_001245137.1:n.651+246_651+252del
NM_001258209.2:c.600+246_600+252del NP_001245138.1:n.600+246_600+252del