Canonical Allele Identifier: CA2003791257
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1946290157

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092307_119092323del , CM000673.2:g.119092307_119092323del GRCh38
NC_000011.9:g.118963017_118963033del , CM000673.1:g.118963017_118963033del GRCh37
NC_000011.8:g.118468227_118468243del NCBI36
NG_008093.1:g.12431_12447del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.487-97_487-81del ENSP00000509288.1:n.487-97_487-81del
ENST00000691144.1:n.2536_2552del
ENST00000691249.1:n.1379_1395del
ENST00000442944.7:c.634-97_634-81del ENSP00000392041.3:n.634-97_634-81del
ENST00000536813.6:c.601-97_601-81del ENSP00000438726.2:n.601-97_601-81del
ENST00000640813.1:c.462-97_462-81del ENSP00000491061.1:n.462-97_462-81del
ENST00000648026.1:c.546-97_546-81del ENSP00000498044.1:n.546-97_546-81del
ENST00000648374.1:c.601-97_601-81del ENSP00000497255.1:n.601-97_601-81del
ENST00000649823.1:n.1012_1028del
ENST00000650101.1:c.583-97_583-81del ENSP00000496970.1:n.583-97_583-81del
ENST00000650307.1:n.1478-97_1478-81del
ENST00000652429.1:c.652-97_652-81del MANE Select ENSP00000498786.1:n.652-97_652-81del
ENST00000278715.7:c.652-97_652-81del ENSP00000278715.3:n.652-97_652-81del
ENST00000392841.1:c.601-97_601-81del ENSP00000376584.1:n.601-97_601-81del
ENST00000442944.6:c.601-97_601-81del ENSP00000392041.2:n.601-97_601-81del
ENST00000537841.5:c.601-97_601-81del ENSP00000444730.1:n.601-97_601-81del
ENST00000542044.5:n.1097-97_1097-81del
ENST00000542729.5:c.600+144_600+160del ENSP00000443058.1:n.600+144_600+160del
ENST00000543090.5:c.559-97_559-81del ENSP00000445429.1:n.559-97_559-81del
ENST00000543543.5:n.1030_1046del
ENST00000544182.1:n.770_786del
ENST00000544387.5:c.651+144_651+160del ENSP00000438424.1:n.651+144_651+160del
ENST00000545621.5:c.*690_*706del ENSP00000444849.1:n.*690_*706del
ENST00000546226.5:n.1083_1099del
NM_000190.3:c.652-97_652-81del NP_000181.2:n.652-97_652-81del
NM_001024382.1:c.601-97_601-81del NP_001019553.1:n.601-97_601-81del
NM_001258208.1:c.651+144_651+160del NP_001245137.1:n.651+144_651+160del
NM_001258209.1:c.600+144_600+160del NP_001245138.1:n.600+144_600+160del
XM_005271531.1:c.601-97_601-81del XP_005271588.1:n.601-97_601-81del
XM_005271532.1:c.601-97_601-81del XP_005271589.1:n.601-97_601-81del
XM_005271533.2:c.598-97_598-81del XP_005271590.1:n.598-97_598-81del
XM_011542796.1:c.487-97_487-81del XP_011541098.1:n.487-97_487-81del
NM_000190.4:c.652-97_652-81del MANE Select NP_000181.2:n.652-97_652-81del
NM_001024382.2:c.601-97_601-81del NP_001019553.1:n.601-97_601-81del
XM_005271533.3:c.598-97_598-81del XP_005271590.1:n.598-97_598-81del
XM_017017629.1:c.601-97_601-81del XP_016873118.1:n.601-97_601-81del
XM_024448460.1:c.597+144_597+160del XP_024304228.1:n.597+144_597+160del
NM_001258208.2:c.651+144_651+160del NP_001245137.1:n.651+144_651+160del
NM_001258209.2:c.600+144_600+160del NP_001245138.1:n.600+144_600+160del