Canonical Allele Identifier: CA913190124

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1468
• ClinVar RCV Id: RCV000001533 ; RCV001389655
• dbSNP Id: rs1565757839
• gnomAD v4: 11-119092479-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092482_119092483del , CM000673.2:g.119092482_119092483del	GRCh38
NC_000011.9:g.118963192_118963193del , CM000673.1:g.118963192_118963193del	GRCh37
NC_000011.8:g.118468402_118468403del	NCBI36
NG_008093.1:g.12606_12607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.565_566del	ENSP00000509288.1:p.Leu189AlafsTer6
ENST00000691144.1:n.2711_2712del
ENST00000691249.1:n.1554_1555del
ENST00000442944.7:c.712_713del	ENSP00000392041.3:p.Leu238AlafsTer6
ENST00000536813.6:c.679_680del	ENSP00000438726.2:p.Leu227AlafsTer?
ENST00000640813.1:c.540_541del	ENSP00000491061.1:p.Cys181LeufsTer?
ENST00000648026.1:c.624_625del	ENSP00000498044.1:p.Cys209LeufsTer?
ENST00000648374.1:c.679_680del	ENSP00000497255.1:p.Leu227AlafsTer6
ENST00000649823.1:n.1187_1188del
ENST00000650101.1:c.661_662del	ENSP00000496970.1:p.Leu221AlafsTer6
ENST00000650307.1:n.1556_1557del
ENST00000652429.1:c.730_731del MANE Select	ENSP00000498786.1:p.Leu244AlafsTer6
ENST00000278715.7:c.730_731del	ENSP00000278715.3:p.Leu244AlafsTer6
ENST00000392841.1:c.679_680del	ENSP00000376584.1:p.Leu227AlafsTer6
ENST00000442944.6:c.679_680del	ENSP00000392041.2:p.Leu227AlafsTer6
ENST00000537841.5:c.679_680del	ENSP00000444730.1:p.Leu227AlafsTer6
ENST00000542044.5:n.1175_1176del
ENST00000542729.5:c.601-276_601-275del	ENSP00000443058.1:n.601-276_601-275del
ENST00000543090.5:c.637_638del	ENSP00000445429.1:p.Leu213AlafsTer6
ENST00000543543.5:n.1205_1206del
ENST00000544182.1:n.945_946del
ENST00000544387.5:c.652-276_652-275del	ENSP00000438424.1:n.652-276_652-275del
ENST00000545621.5:c.*865_*866del	ENSP00000444849.1:n.*865_*866del
ENST00000546226.5:n.1258_1259del
NM_000190.3:c.730_731del	NP_000181.2:p.Leu244AlafsTer6
NM_001024382.1:c.679_680del	NP_001019553.1:p.Leu227AlafsTer6
NM_001258208.1:c.652-276_652-275del	NP_001245137.1:n.652-276_652-275del
NM_001258209.1:c.601-276_601-275del	NP_001245138.1:n.601-276_601-275del
XM_005271531.1:c.679_680del	XP_005271588.1:p.Leu227AlafsTer6
XM_005271532.1:c.679_680del	XP_005271589.1:p.Leu227AlafsTer6
XM_005271533.2:c.676_677del	XP_005271590.1:p.Leu226AlafsTer6
XM_011542796.1:c.565_566del	XP_011541098.1:p.Leu189AlafsTer6
NM_000190.4:c.730_731del MANE Select	NP_000181.2:p.Leu244AlafsTer6
NM_001024382.2:c.679_680del	NP_001019553.1:p.Leu227AlafsTer6
XM_005271533.3:c.676_677del	XP_005271590.1:p.Leu226AlafsTer6
XM_017017629.1:c.679_680del	XP_016873118.1:p.Leu227AlafsTer6
XM_024448460.1:c.598-276_598-275del	XP_024304228.1:n.598-276_598-275del
NM_001258208.2:c.652-276_652-275del	NP_001245137.1:n.652-276_652-275del
NM_001258209.2:c.601-276_601-275del	NP_001245138.1:n.601-276_601-275del