Canonical Allele Identifier: CA2575084958
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092359_119092362del , CM000673.2:g.119092359_119092362del GRCh38
NC_000011.9:g.118963069_118963072del , CM000673.1:g.118963069_118963072del GRCh37
NC_000011.8:g.118468279_118468282del NCBI36
NG_008093.1:g.12483_12486del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.487-45_487-42del ENSP00000509288.1:n.487-45_487-42del
ENST00000691144.1:n.2588_2591del
ENST00000691249.1:n.1431_1434del
ENST00000442944.7:c.634-45_634-42del ENSP00000392041.3:n.634-45_634-42del
ENST00000536813.6:c.601-45_601-42del ENSP00000438726.2:n.601-45_601-42del
ENST00000640813.1:c.462-45_462-42del ENSP00000491061.1:n.462-45_462-42del
ENST00000648026.1:c.546-45_546-42del ENSP00000498044.1:n.546-45_546-42del
ENST00000648374.1:c.601-45_601-42del ENSP00000497255.1:n.601-45_601-42del
ENST00000649823.1:n.1064_1067del
ENST00000650101.1:c.583-45_583-42del ENSP00000496970.1:n.583-45_583-42del
ENST00000650307.1:n.1478-45_1478-42del
ENST00000652429.1:c.652-45_652-42del MANE Select ENSP00000498786.1:n.652-45_652-42del
ENST00000278715.7:c.652-45_652-42del ENSP00000278715.3:n.652-45_652-42del
ENST00000392841.1:c.601-45_601-42del ENSP00000376584.1:n.601-45_601-42del
ENST00000442944.6:c.601-45_601-42del ENSP00000392041.2:n.601-45_601-42del
ENST00000537841.5:c.601-45_601-42del ENSP00000444730.1:n.601-45_601-42del
ENST00000542044.5:n.1097-45_1097-42del
ENST00000542729.5:c.600+196_600+199del ENSP00000443058.1:n.600+196_600+199del
ENST00000543090.5:c.559-45_559-42del ENSP00000445429.1:n.559-45_559-42del
ENST00000543543.5:n.1082_1085del
ENST00000544182.1:n.822_825del
ENST00000544387.5:c.651+196_651+199del ENSP00000438424.1:n.651+196_651+199del
ENST00000545621.5:c.*742_*745del ENSP00000444849.1:n.*742_*745del
ENST00000546226.5:n.1135_1138del
NM_000190.3:c.652-45_652-42del NP_000181.2:n.652-45_652-42del
NM_001024382.1:c.601-45_601-42del NP_001019553.1:n.601-45_601-42del
NM_001258208.1:c.651+196_651+199del NP_001245137.1:n.651+196_651+199del
NM_001258209.1:c.600+196_600+199del NP_001245138.1:n.600+196_600+199del
XM_005271531.1:c.601-45_601-42del XP_005271588.1:n.601-45_601-42del
XM_005271532.1:c.601-45_601-42del XP_005271589.1:n.601-45_601-42del
XM_005271533.2:c.598-45_598-42del XP_005271590.1:n.598-45_598-42del
XM_011542796.1:c.487-45_487-42del XP_011541098.1:n.487-45_487-42del
NM_000190.4:c.652-45_652-42del MANE Select NP_000181.2:n.652-45_652-42del
NM_001024382.2:c.601-45_601-42del NP_001019553.1:n.601-45_601-42del
XM_005271533.3:c.598-45_598-42del XP_005271590.1:n.598-45_598-42del
XM_017017629.1:c.601-45_601-42del XP_016873118.1:n.601-45_601-42del
XM_024448460.1:c.597+196_597+199del XP_024304228.1:n.597+196_597+199del
NM_001258208.2:c.651+196_651+199del NP_001245137.1:n.651+196_651+199del
NM_001258209.2:c.600+196_600+199del NP_001245138.1:n.600+196_600+199del