Canonical Allele Identifier: CA2695215840
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092483dup , CM000673.2:g.119092483dup GRCh38
NC_000011.9:g.118963193dup , CM000673.1:g.118963193dup GRCh37
NC_000011.8:g.118468403dup NCBI36
NG_008093.1:g.12607dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.566dup ENSP00000509288.1:p.Leu190AlafsTer6
ENST00000691144.1:n.2712dup
ENST00000691249.1:n.1555dup
ENST00000442944.7:c.713dup ENSP00000392041.3:p.Leu239AlafsTer6
ENST00000536813.6:c.680dup ENSP00000438726.2:p.Leu228AlafsTer?
ENST00000640813.1:c.541dup ENSP00000491061.1:p.Cys181LeufsTer?
ENST00000648026.1:c.625dup ENSP00000498044.1:p.Cys209LeufsTer?
ENST00000648374.1:c.680dup ENSP00000497255.1:p.Leu228AlafsTer6
ENST00000649823.1:n.1188dup
ENST00000650101.1:c.662dup ENSP00000496970.1:p.Leu222AlafsTer6
ENST00000650307.1:n.1557dup
ENST00000652429.1:c.731dup MANE Select ENSP00000498786.1:p.Leu245AlafsTer6
ENST00000278715.7:c.731dup ENSP00000278715.3:p.Leu245AlafsTer6
ENST00000392841.1:c.680dup ENSP00000376584.1:p.Leu228AlafsTer6
ENST00000442944.6:c.680dup ENSP00000392041.2:p.Leu228AlafsTer6
ENST00000537841.5:c.680dup ENSP00000444730.1:p.Leu228AlafsTer6
ENST00000542044.5:n.1176dup
ENST00000542729.5:c.601-275dup ENSP00000443058.1:n.601-275dup
ENST00000543090.5:c.638dup ENSP00000445429.1:p.Leu214AlafsTer6
ENST00000543543.5:n.1206dup
ENST00000544182.1:n.946dup
ENST00000544387.5:c.652-275dup ENSP00000438424.1:n.652-275dup
ENST00000545621.5:c.*866dup ENSP00000444849.1:n.*866dup
ENST00000546226.5:n.1259dup
NM_000190.3:c.731dup NP_000181.2:p.Leu245AlafsTer6
NM_001024382.1:c.680dup NP_001019553.1:p.Leu228AlafsTer6
NM_001258208.1:c.652-275dup NP_001245137.1:n.652-275dup
NM_001258209.1:c.601-275dup NP_001245138.1:n.601-275dup
XM_005271531.1:c.680dup XP_005271588.1:p.Leu228AlafsTer6
XM_005271532.1:c.680dup XP_005271589.1:p.Leu228AlafsTer6
XM_005271533.2:c.677dup XP_005271590.1:p.Leu227AlafsTer6
XM_011542796.1:c.566dup XP_011541098.1:p.Leu190AlafsTer6
NM_000190.4:c.731dup MANE Select NP_000181.2:p.Leu245AlafsTer6
NM_001024382.2:c.680dup NP_001019553.1:p.Leu228AlafsTer6
XM_005271533.3:c.677dup XP_005271590.1:p.Leu227AlafsTer6
XM_017017629.1:c.680dup XP_016873118.1:p.Leu228AlafsTer6
XM_024448460.1:c.598-275dup XP_024304228.1:n.598-275dup
NM_001258208.2:c.652-275dup NP_001245137.1:n.652-275dup
NM_001258209.2:c.601-275dup NP_001245138.1:n.601-275dup