Canonical Allele Identifier: CA16043455
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 374084
dbSNP Id: rs1057518886

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119090045del , CM000673.2:g.119090045del GRCh38
NC_000011.9:g.118960755del , CM000673.1:g.118960755del GRCh37
NC_000011.8:g.118465965del NCBI36
NG_008093.1:g.10169del

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.235del ENSP00000509288.1:p.Leu79Ter
ENST00000686690.1:n.1250del
ENST00000691144.1:n.2141del
ENST00000691249.1:n.984del
ENST00000442944.7:c.382del ENSP00000392041.3:p.Leu128Ter
ENST00000534956.2:n.349del
ENST00000536813.6:c.349del ENSP00000438726.2:p.Leu117Ter
ENST00000546302.6:c.322del ENSP00000445599.1:p.Leu108Ter
ENST00000640813.1:c.349del ENSP00000491061.1:p.Leu117Ter
ENST00000648026.1:c.394del ENSP00000498044.1:p.Leu132Ter
ENST00000648374.1:c.349del ENSP00000497255.1:p.Leu117Ter
ENST00000648488.1:c.349del ENSP00000498079.1:p.Leu117Ter
ENST00000649823.1:n.617del
ENST00000649868.1:c.*108del ENSP00000497548.1:n.*108del
ENST00000650101.1:c.331del ENSP00000496970.1:p.Leu111Ter
ENST00000650307.1:n.1226del
ENST00000652429.1:c.400del MANE Select ENSP00000498786.1:p.Leu134Ter
ENST00000278715.7:c.400del ENSP00000278715.3:p.Leu134Ter
ENST00000392841.1:c.349del ENSP00000376584.1:p.Leu117Ter
ENST00000442944.6:c.349del ENSP00000392041.2:p.Leu117Ter
ENST00000534956.1:n.316del
ENST00000535253.5:c.349del ENSP00000442079.1:p.Leu117Ter
ENST00000535793.5:c.*295del ENSP00000439904.1:n.*295del
ENST00000537841.5:c.349del ENSP00000444730.1:p.Leu117Ter
ENST00000539986.5:c.349del ENSP00000440092.1:p.Leu117Ter
ENST00000542044.5:n.845del
ENST00000542345.5:n.538del
ENST00000542729.5:c.349del ENSP00000443058.1:p.Leu117Ter
ENST00000542822.5:c.*336del ENSP00000444817.1:n.*336del
ENST00000543090.5:c.346del ENSP00000445429.1:p.Leu116Ter
ENST00000543543.5:n.635del
ENST00000543821.5:n.561del
ENST00000544360.5:n.368del
ENST00000544387.5:c.400del ENSP00000438424.1:p.Leu134Ter
ENST00000545621.5:c.*295del ENSP00000444849.1:n.*295del
ENST00000546226.5:n.688del
ENST00000546302.5:c.322del ENSP00000445599.1:p.Leu108Ter
NM_000190.3:c.400del NP_000181.2:p.Leu134Ter
NM_001024382.1:c.349del NP_001019553.1:p.Leu117Ter
NM_001258208.1:c.400del NP_001245137.1:p.Leu134Ter
NM_001258209.1:c.349del NP_001245138.1:p.Leu117Ter
XM_005271531.1:c.349del XP_005271588.1:p.Leu117Ter
XM_005271532.1:c.349del XP_005271589.1:p.Leu117Ter
XM_005271533.2:c.346del XP_005271590.1:p.Leu116Ter
XM_011542796.1:c.235del XP_011541098.1:p.Leu79Ter
NM_000190.4:c.400del MANE Select NP_000181.2:p.Leu134Ter
NM_001024382.2:c.349del NP_001019553.1:p.Leu117Ter
XM_005271533.3:c.346del XP_005271590.1:p.Leu116Ter
XM_017017629.1:c.349del XP_016873118.1:p.Leu117Ter
XM_024448460.1:c.346del XP_024304228.1:p.Leu116Ter
NM_001258208.2:c.400del NP_001245137.1:p.Leu134Ter
NM_001258209.2:c.349del NP_001245138.1:p.Leu117Ter