Canonical Allele Identifier: CA602577937

Gene: HMBS

Linked Data

• dbSNP Id: rs1480288064
• gnomAD v2: 11-118963898-GC-G
• gnomAD v4: 11-119093188-GC-G
• MyVariant Identifiers: chr11:g.118963899del (hg19) ; chr11:g.119093189del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093191del , CM000673.2:g.119093191del	GRCh38
NC_000011.9:g.118963901del , CM000673.1:g.118963901del	GRCh37
NC_000011.8:g.118469111del	NCBI36
NG_008093.1:g.13315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.829del	ENSP00000509288.1:p.Gln277ArgfsTer12
ENST00000691144.1:n.3209del
ENST00000691249.1:n.1818del
ENST00000442944.7:c.976del	ENSP00000392041.3:p.Gln326ArgfsTer12
ENST00000640813.1:c.*231del	ENSP00000491061.1:n.*231del
ENST00000648026.1:c.888del	ENSP00000498044.1:n.888del
ENST00000648374.1:c.943del	ENSP00000497255.1:p.Gln315ArgfsTer12
ENST00000650101.1:c.925del	ENSP00000496970.1:p.Gln309ArgfsTer12
ENST00000650307.1:n.1820del
ENST00000652429.1:c.994del MANE Select	ENSP00000498786.1:p.Gln332ArgfsTer12
ENST00000278715.7:c.994del	ENSP00000278715.3:p.Gln332ArgfsTer12
ENST00000392841.1:c.943del	ENSP00000376584.1:p.Gln315ArgfsTer12
ENST00000442944.6:c.943del	ENSP00000392041.2:p.Gln315ArgfsTer12
ENST00000537841.5:c.943del	ENSP00000444730.1:p.Gln315ArgfsTer12
ENST00000539045.1:n.493del
ENST00000542044.5:n.1439del
ENST00000542729.5:c.823del	ENSP00000443058.1:p.Gln275ArgfsTer12
ENST00000543090.5:c.901del	ENSP00000445429.1:p.Gln301ArgfsTer12
ENST00000543543.5:n.1469del
ENST00000544182.1:n.1443del
ENST00000544387.5:c.874del	ENSP00000438424.1:p.Gln292ArgfsTer12
ENST00000546226.5:n.1756del
NM_000190.3:c.994del	NP_000181.2:p.Gln332ArgfsTer12
NM_001024382.1:c.943del	NP_001019553.1:p.Gln315ArgfsTer12
NM_001258208.1:c.874del	NP_001245137.1:p.Gln292ArgfsTer12
NM_001258209.1:c.823del	NP_001245138.1:p.Gln275ArgfsTer12
XM_005271531.1:c.943del	XP_005271588.1:p.Gln315ArgfsTer12
XM_005271532.1:c.943del	XP_005271589.1:p.Gln315ArgfsTer12
XM_005271533.2:c.940del	XP_005271590.1:p.Gln314ArgfsTer12
XM_011542796.1:c.829del	XP_011541098.1:p.Gln277ArgfsTer12
NM_000190.4:c.994del MANE Select	NP_000181.2:p.Gln332ArgfsTer12
NM_001024382.2:c.943del	NP_001019553.1:p.Gln315ArgfsTer12
XM_005271533.3:c.940del	XP_005271590.1:p.Gln314ArgfsTer12
XM_017017629.1:c.943del	XP_016873118.1:p.Gln315ArgfsTer12
XM_024448460.1:c.820del	XP_024304228.1:p.Gln274ArgfsTer12
NM_001258208.2:c.874del	NP_001245137.1:p.Gln292ArgfsTer12
NM_001258209.2:c.823del	NP_001245138.1:p.Gln275ArgfsTer12