Canonical Allele Identifier: CA16043456
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 373971
ClinVar RCV Id: RCV000415138
dbSNP Id: rs1057518806

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093155del , CM000673.2:g.119093155del GRCh38
NC_000011.9:g.118963865del , CM000673.1:g.118963865del GRCh37
NC_000011.8:g.118469075del NCBI36
NG_008093.1:g.13279del

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.793del ENSP00000509288.1:p.Ala265LeufsTer24
ENST00000691144.1:n.3173del
ENST00000691249.1:n.1782del
ENST00000442944.7:c.940del ENSP00000392041.3:p.Ala314LeufsTer24
ENST00000640813.1:c.*195del ENSP00000491061.1:n.*195del
ENST00000648026.1:c.852del ENSP00000498044.1:n.852del
ENST00000648374.1:c.907del ENSP00000497255.1:p.Ala303LeufsTer24
ENST00000650101.1:c.889del ENSP00000496970.1:p.Ala297LeufsTer24
ENST00000650307.1:n.1784del
ENST00000652429.1:c.958del MANE Select ENSP00000498786.1:p.Ala320LeufsTer24
ENST00000278715.7:c.958del ENSP00000278715.3:p.Ala320LeufsTer24
ENST00000392841.1:c.907del ENSP00000376584.1:p.Ala303LeufsTer24
ENST00000442944.6:c.907del ENSP00000392041.2:p.Ala303LeufsTer24
ENST00000537841.5:c.907del ENSP00000444730.1:p.Ala303LeufsTer24
ENST00000539045.1:n.457del
ENST00000542044.5:n.1403del
ENST00000542729.5:c.787del ENSP00000443058.1:p.Ala263LeufsTer24
ENST00000543090.5:c.865del ENSP00000445429.1:p.Ala289LeufsTer24
ENST00000543543.5:n.1433del
ENST00000544182.1:n.1407del
ENST00000544387.5:c.838del ENSP00000438424.1:p.Ala280LeufsTer24
ENST00000546226.5:n.1720del
NM_000190.3:c.958del NP_000181.2:p.Ala320LeufsTer24
NM_001024382.1:c.907del NP_001019553.1:p.Ala303LeufsTer24
NM_001258208.1:c.838del NP_001245137.1:p.Ala280LeufsTer24
NM_001258209.1:c.787del NP_001245138.1:p.Ala263LeufsTer24
XM_005271531.1:c.907del XP_005271588.1:p.Ala303LeufsTer24
XM_005271532.1:c.907del XP_005271589.1:p.Ala303LeufsTer24
XM_005271533.2:c.904del XP_005271590.1:p.Ala302LeufsTer24
XM_011542796.1:c.793del XP_011541098.1:p.Ala265LeufsTer24
NM_000190.4:c.958del MANE Select NP_000181.2:p.Ala320LeufsTer24
NM_001024382.2:c.907del NP_001019553.1:p.Ala303LeufsTer24
XM_005271533.3:c.904del XP_005271590.1:p.Ala302LeufsTer24
XM_017017629.1:c.907del XP_016873118.1:p.Ala303LeufsTer24
XM_024448460.1:c.784del XP_024304228.1:p.Ala262LeufsTer24
NM_001258208.2:c.838del NP_001245137.1:p.Ala280LeufsTer24
NM_001258209.2:c.787del NP_001245138.1:p.Ala263LeufsTer24