Canonical Allele Identifier: CA2003791672
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092481_119092482delinsTC , CM000673.2:g.119092481_119092482delinsTC GRCh38
NC_000011.9:g.118963191_118963192delinsTC , CM000673.1:g.118963191_118963192delinsTC GRCh37
NC_000011.8:g.118468401_118468402delinsTC NCBI36
NG_008093.1:g.12605_12606delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.564_565delinsTC ENSP00000509288.1:p.Thr188=
ENST00000691144.1:n.2710_2711delinsTC
ENST00000691249.1:n.1553_1554delinsTC
ENST00000442944.7:c.711_712delinsTC ENSP00000392041.3:p.Thr237=
ENST00000536813.6:c.678_679delinsTC ENSP00000438726.2:p.Thr226=
ENST00000640813.1:c.539_540delinsTC ENSP00000491061.1:p.Leu180=
ENST00000648026.1:c.623_624delinsTC ENSP00000498044.1:p.Leu208=
ENST00000648374.1:c.678_679delinsTC ENSP00000497255.1:p.Thr226=
ENST00000649823.1:n.1186_1187delinsTC
ENST00000650101.1:c.660_661delinsTC ENSP00000496970.1:p.Thr220=
ENST00000650307.1:n.1555_1556delinsTC
ENST00000652429.1:c.729_730delinsTC MANE Select ENSP00000498786.1:p.Thr243=
ENST00000278715.7:c.729_730delinsTC ENSP00000278715.3:p.Thr243=
ENST00000392841.1:c.678_679delinsTC ENSP00000376584.1:p.Thr226=
ENST00000442944.6:c.678_679delinsTC ENSP00000392041.2:p.Thr226=
ENST00000537841.5:c.678_679delinsTC ENSP00000444730.1:p.Thr226=
ENST00000542044.5:n.1174_1175delinsTC
ENST00000542729.5:c.601-277_601-276delinsTC ENSP00000443058.1:n.601-277_601-276delinsTC
ENST00000543090.5:c.636_637delinsTC ENSP00000445429.1:p.Thr212=
ENST00000543543.5:n.1204_1205delinsTC
ENST00000544182.1:n.944_945delinsTC
ENST00000544387.5:c.652-277_652-276delinsTC ENSP00000438424.1:n.652-277_652-276delinsTC
ENST00000545621.5:c.*864_*865delinsTC ENSP00000444849.1:n.*864_*865delinsTC
ENST00000546226.5:n.1257_1258delinsTC
NM_000190.3:c.729_730delinsTC NP_000181.2:p.Thr243=
NM_001024382.1:c.678_679delinsTC NP_001019553.1:p.Thr226=
NM_001258208.1:c.652-277_652-276delinsTC NP_001245137.1:n.652-277_652-276delinsTC
NM_001258209.1:c.601-277_601-276delinsTC NP_001245138.1:n.601-277_601-276delinsTC
XM_005271531.1:c.678_679delinsTC XP_005271588.1:p.Thr226=
XM_005271532.1:c.678_679delinsTC XP_005271589.1:p.Thr226=
XM_005271533.2:c.675_676delinsTC XP_005271590.1:p.Thr225=
XM_011542796.1:c.564_565delinsTC XP_011541098.1:p.Thr188=
NM_000190.4:c.729_730delinsTC MANE Select NP_000181.2:p.Thr243=
NM_001024382.2:c.678_679delinsTC NP_001019553.1:p.Thr226=
XM_005271533.3:c.675_676delinsTC XP_005271590.1:p.Thr225=
XM_017017629.1:c.678_679delinsTC XP_016873118.1:p.Thr226=
XM_024448460.1:c.598-277_598-276delinsTC XP_024304228.1:n.598-277_598-276delinsTC
NM_001258208.2:c.652-277_652-276delinsTC NP_001245137.1:n.652-277_652-276delinsTC
NM_001258209.2:c.601-277_601-276delinsTC NP_001245138.1:n.601-277_601-276delinsTC