Canonical Allele Identifier: CA658797819
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 522578
ClinVar RCV Id: RCV000625717
dbSNP Id: rs1555206128

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092421_119092450del , CM000673.2:g.119092421_119092450del GRCh38
NC_000011.9:g.118963131_118963160del , CM000673.1:g.118963131_118963160del GRCh37
NC_000011.8:g.118468341_118468370del NCBI36
NG_008093.1:g.12545_12574del

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.504_533del ENSP00000509288.1:p.Glu168_Leu177del
ENST00000691144.1:n.2650_2679del
ENST00000691249.1:n.1493_1522del
ENST00000442944.7:c.651_680del ENSP00000392041.3:p.Glu217_Leu226del
ENST00000536813.6:c.618_647del ENSP00000438726.2:p.Glu206_Leu215del
ENST00000640813.1:c.479_508del ENSP00000491061.1:p.Lys160_Trp169del
ENST00000648026.1:c.563_592del ENSP00000498044.1:p.Lys188_Trp197del
ENST00000648374.1:c.618_647del ENSP00000497255.1:p.Glu206_Leu215del
ENST00000649823.1:n.1126_1155del
ENST00000650101.1:c.600_629del ENSP00000496970.1:p.Glu200_Leu209del
ENST00000650307.1:n.1495_1524del
ENST00000652429.1:c.669_698del MANE Select ENSP00000498786.1:p.Glu223_Leu232del
ENST00000278715.7:c.669_698del ENSP00000278715.3:p.Glu223_Leu232del
ENST00000392841.1:c.618_647del ENSP00000376584.1:p.Glu206_Leu215del
ENST00000442944.6:c.618_647del ENSP00000392041.2:p.Glu206_Leu215del
ENST00000537841.5:c.618_647del ENSP00000444730.1:p.Glu206_Leu215del
ENST00000542044.5:n.1114_1143del
ENST00000542729.5:c.600+258_600+287del ENSP00000443058.1:n.600+258_600+287del
ENST00000543090.5:c.576_605del ENSP00000445429.1:p.Glu192_Leu201del
ENST00000543543.5:n.1144_1173del
ENST00000544182.1:n.884_913del
ENST00000544387.5:c.651+258_651+287del ENSP00000438424.1:n.651+258_651+287del
ENST00000545621.5:c.*804_*833del ENSP00000444849.1:n.*804_*833del
ENST00000546226.5:n.1197_1226del
NM_000190.3:c.669_698del NP_000181.2:p.Glu223_Leu232del
NM_001024382.1:c.618_647del NP_001019553.1:p.Glu206_Leu215del
NM_001258208.1:c.651+258_651+287del NP_001245137.1:n.651+258_651+287del
NM_001258209.1:c.600+258_600+287del NP_001245138.1:n.600+258_600+287del
XM_005271531.1:c.618_647del XP_005271588.1:p.Glu206_Leu215del
XM_005271532.1:c.618_647del XP_005271589.1:p.Glu206_Leu215del
XM_005271533.2:c.615_644del XP_005271590.1:p.Glu205_Leu214del
XM_011542796.1:c.504_533del XP_011541098.1:p.Glu168_Leu177del
NM_000190.4:c.669_698del MANE Select NP_000181.2:p.Glu223_Leu232del
NM_001024382.2:c.618_647del NP_001019553.1:p.Glu206_Leu215del
XM_005271533.3:c.615_644del XP_005271590.1:p.Glu205_Leu214del
XM_017017629.1:c.618_647del XP_016873118.1:p.Glu206_Leu215del
XM_024448460.1:c.597+258_597+287del XP_024304228.1:n.597+258_597+287del
NM_001258208.2:c.651+258_651+287del NP_001245137.1:n.651+258_651+287del
NM_001258209.2:c.600+258_600+287del NP_001245138.1:n.600+258_600+287del