Canonical Allele Identifier: CA2695215850
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092774_119092775del , CM000673.2:g.119092774_119092775del GRCh38
NC_000011.9:g.118963484_118963485del , CM000673.1:g.118963484_118963485del GRCh37
NC_000011.8:g.118468694_118468695del NCBI36
NG_008093.1:g.12898_12899del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.623_624del ENSP00000509288.1:p.Val208AlafsTer27
ENST00000691144.1:n.3003_3004del
ENST00000691249.1:n.1612_1613del
ENST00000442944.7:c.770_771del ENSP00000392041.3:p.Val257AlafsTer27
ENST00000640813.1:c.*25_*26del ENSP00000491061.1:n.*25_*26del
ENST00000648026.1:c.682_683del ENSP00000498044.1:n.682_683del
ENST00000648374.1:c.737_738del ENSP00000497255.1:p.Val246AlafsTer27
ENST00000649823.1:n.1245_1246del
ENST00000650101.1:c.719_720del ENSP00000496970.1:p.Val240AlafsTer27
ENST00000650307.1:n.1614_1615del
ENST00000652429.1:c.788_789del MANE Select ENSP00000498786.1:p.Val263AlafsTer27
ENST00000278715.7:c.788_789del ENSP00000278715.3:p.Val263AlafsTer27
ENST00000392841.1:c.737_738del ENSP00000376584.1:p.Val246AlafsTer27
ENST00000442944.6:c.737_738del ENSP00000392041.2:p.Val246AlafsTer27
ENST00000537841.5:c.737_738del ENSP00000444730.1:p.Val246AlafsTer27
ENST00000539045.1:n.164_165del
ENST00000542044.5:n.1233_1234del
ENST00000542729.5:c.617_618del ENSP00000443058.1:p.Val206AlafsTer27
ENST00000543090.5:c.695_696del ENSP00000445429.1:p.Val232AlafsTer27
ENST00000543543.5:n.1263_1264del
ENST00000544182.1:n.1237_1238del
ENST00000544387.5:c.668_669del ENSP00000438424.1:p.Val223AlafsTer27
ENST00000546226.5:n.1550_1551del
NM_000190.3:c.788_789del NP_000181.2:p.Val263AlafsTer27
NM_001024382.1:c.737_738del NP_001019553.1:p.Val246AlafsTer27
NM_001258208.1:c.668_669del NP_001245137.1:p.Val223AlafsTer27
NM_001258209.1:c.617_618del NP_001245138.1:p.Val206AlafsTer27
XM_005271531.1:c.737_738del XP_005271588.1:p.Val246AlafsTer27
XM_005271532.1:c.737_738del XP_005271589.1:p.Val246AlafsTer27
XM_005271533.2:c.734_735del XP_005271590.1:p.Val245AlafsTer27
XM_011542796.1:c.623_624del XP_011541098.1:p.Val208AlafsTer27
NM_000190.4:c.788_789del MANE Select NP_000181.2:p.Val263AlafsTer27
NM_001024382.2:c.737_738del NP_001019553.1:p.Val246AlafsTer27
XM_005271533.3:c.734_735del XP_005271590.1:p.Val245AlafsTer27
XM_017017629.1:c.737_738del XP_016873118.1:p.Val246AlafsTer27
XM_024448460.1:c.614_615del XP_024304228.1:p.Val205AlafsTer27
NM_001258208.2:c.668_669del NP_001245137.1:p.Val223AlafsTer27
NM_001258209.2:c.617_618del NP_001245138.1:p.Val206AlafsTer27