Canonical Allele Identifier: CA2582342480

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2583183
• ClinVar RCV Id: RCV003334474

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092801del , CM000673.2:g.119092801del	GRCh38
NC_000011.9:g.118963511del , CM000673.1:g.118963511del	GRCh37
NC_000011.8:g.118468721del	NCBI36
NG_008093.1:g.12925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.650del	ENSP00000509288.1:p.Lys217ArgfsTer7
ENST00000691144.1:n.3030del
ENST00000691249.1:n.1639del
ENST00000442944.7:c.797del	ENSP00000392041.3:p.Lys266ArgfsTer7
ENST00000640813.1:c.*52del	ENSP00000491061.1:n.*52del
ENST00000648026.1:c.709del	ENSP00000498044.1:n.709del
ENST00000648374.1:c.764del	ENSP00000497255.1:p.Lys255ArgfsTer7
ENST00000649823.1:n.1272del
ENST00000650101.1:c.746del	ENSP00000496970.1:p.Lys249ArgfsTer7
ENST00000650307.1:n.1641del
ENST00000652429.1:c.815del MANE Select	ENSP00000498786.1:p.Lys272ArgfsTer7
ENST00000278715.7:c.815del	ENSP00000278715.3:p.Lys272ArgfsTer7
ENST00000392841.1:c.764del	ENSP00000376584.1:p.Lys255ArgfsTer7
ENST00000442944.6:c.764del	ENSP00000392041.2:p.Lys255ArgfsTer7
ENST00000537841.5:c.764del	ENSP00000444730.1:p.Lys255ArgfsTer7
ENST00000539045.1:n.191del
ENST00000542044.5:n.1260del
ENST00000542729.5:c.644del	ENSP00000443058.1:p.Lys215ArgfsTer7
ENST00000543090.5:c.722del	ENSP00000445429.1:p.Lys241ArgfsTer7
ENST00000543543.5:n.1290del
ENST00000544182.1:n.1264del
ENST00000544387.5:c.695del	ENSP00000438424.1:p.Lys232ArgfsTer7
ENST00000546226.5:n.1577del
NM_000190.3:c.815del	NP_000181.2:p.Lys272ArgfsTer7
NM_001024382.1:c.764del	NP_001019553.1:p.Lys255ArgfsTer7
NM_001258208.1:c.695del	NP_001245137.1:p.Lys232ArgfsTer7
NM_001258209.1:c.644del	NP_001245138.1:p.Lys215ArgfsTer7
XM_005271531.1:c.764del	XP_005271588.1:p.Lys255ArgfsTer7
XM_005271532.1:c.764del	XP_005271589.1:p.Lys255ArgfsTer7
XM_005271533.2:c.761del	XP_005271590.1:p.Lys254ArgfsTer7
XM_011542796.1:c.650del	XP_011541098.1:p.Lys217ArgfsTer7
NM_000190.4:c.815del MANE Select	NP_000181.2:p.Lys272ArgfsTer7
NM_001024382.2:c.764del	NP_001019553.1:p.Lys255ArgfsTer7
XM_005271533.3:c.761del	XP_005271590.1:p.Lys254ArgfsTer7
XM_017017629.1:c.764del	XP_016873118.1:p.Lys255ArgfsTer7
XM_024448460.1:c.641del	XP_024304228.1:p.Lys214ArgfsTer7
NM_001258208.2:c.695del	NP_001245137.1:p.Lys232ArgfsTer7
NM_001258209.2:c.644del	NP_001245138.1:p.Lys215ArgfsTer7