Canonical Allele Identifier: CA2580083691

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2002960
• ClinVar RCV Id: RCV002833107

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093217del , CM000673.2:g.119093217del	GRCh38
NC_000011.9:g.118963927del , CM000673.1:g.118963927del	GRCh37
NC_000011.8:g.118469137del	NCBI36
NG_008093.1:g.13341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.855del	ENSP00000509288.1:p.Leu286CysfsTer3
ENST00000691144.1:n.3235del
ENST00000691249.1:n.1844del
ENST00000442944.7:c.1002del	ENSP00000392041.3:p.Leu335CysfsTer3
ENST00000640813.1:c.*257del	ENSP00000491061.1:n.*257del
ENST00000648026.1:c.914del	ENSP00000498044.1:n.914del
ENST00000648374.1:c.969del	ENSP00000497255.1:p.Leu324CysfsTer3
ENST00000650101.1:c.951del	ENSP00000496970.1:p.Leu318CysfsTer3
ENST00000650307.1:n.1846del
ENST00000652429.1:c.1020del MANE Select	ENSP00000498786.1:p.Leu341CysfsTer3
ENST00000278715.7:c.1020del	ENSP00000278715.3:p.Leu341CysfsTer3
ENST00000392841.1:c.969del	ENSP00000376584.1:p.Leu324CysfsTer3
ENST00000442944.6:c.969del	ENSP00000392041.2:p.Leu324CysfsTer3
ENST00000537841.5:c.969del	ENSP00000444730.1:p.Leu324CysfsTer3
ENST00000539045.1:n.519del
ENST00000542044.5:n.1465del
ENST00000542729.5:c.849del	ENSP00000443058.1:p.Leu284CysfsTer3
ENST00000543090.5:c.927del	ENSP00000445429.1:p.Leu310CysfsTer3
ENST00000543543.5:n.1495del
ENST00000544182.1:n.1469del
ENST00000544387.5:c.900del	ENSP00000438424.1:p.Leu301CysfsTer3
ENST00000546226.5:n.1782del
NM_000190.3:c.1020del	NP_000181.2:p.Leu341CysfsTer3
NM_001024382.1:c.969del	NP_001019553.1:p.Leu324CysfsTer3
NM_001258208.1:c.900del	NP_001245137.1:p.Leu301CysfsTer3
NM_001258209.1:c.849del	NP_001245138.1:p.Leu284CysfsTer3
XM_005271531.1:c.969del	XP_005271588.1:p.Leu324CysfsTer3
XM_005271532.1:c.969del	XP_005271589.1:p.Leu324CysfsTer3
XM_005271533.2:c.966del	XP_005271590.1:p.Leu323CysfsTer3
XM_011542796.1:c.855del	XP_011541098.1:p.Leu286CysfsTer3
NM_000190.4:c.1020del MANE Select	NP_000181.2:p.Leu341CysfsTer3
NM_001024382.2:c.969del	NP_001019553.1:p.Leu324CysfsTer3
XM_005271533.3:c.966del	XP_005271590.1:p.Leu323CysfsTer3
XM_017017629.1:c.969del	XP_016873118.1:p.Leu324CysfsTer3
XM_024448460.1:c.846del	XP_024304228.1:p.Leu283CysfsTer3
NM_001258208.2:c.900del	NP_001245137.1:p.Leu301CysfsTer3
NM_001258209.2:c.849del	NP_001245138.1:p.Leu284CysfsTer3