Canonical Allele Identifier: CA602168879

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2964657
• ClinVar RCV Id: RCV003828279
• dbSNP Id: rs1375240743
• gnomAD v2: 11-118962165-CAGG-C
• gnomAD v3: 11-119091455-CAGG-C
• gnomAD v4: 11-119091455-CAGG-C
• MyVariant Identifiers: chr11:g.118962166_118962168del (hg19) ; chr11:g.119091456_119091458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091458_119091460del , CM000673.2:g.119091458_119091460del	GRCh38
NC_000011.9:g.118962168_118962170del , CM000673.1:g.118962168_118962170del	GRCh37
NC_000011.8:g.118467378_118467380del	NCBI36
NG_008093.1:g.11582_11584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.379_381del	ENSP00000509288.1:p.Glu127del
ENST00000686690.1:n.1394_1396del
ENST00000691144.1:n.2285_2287del
ENST00000691249.1:n.1128_1130del
ENST00000442944.7:c.526_528del	ENSP00000392041.3:p.Glu176del
ENST00000534956.2:n.448-403_448-401del
ENST00000536813.6:c.493_495del	ENSP00000438726.2:p.Glu165del
ENST00000546302.6:c.466_468del	ENSP00000445599.1:p.Glu156del
ENST00000640813.1:c.448-403_448-401del	ENSP00000491061.1:n.448-403_448-401del
ENST00000648026.1:c.493-403_493-401del	ENSP00000498044.1:n.493-403_493-401del
ENST00000648374.1:c.493_495del	ENSP00000497255.1:p.Glu165del
ENST00000648488.1:c.*85+202_*85+204del	ENSP00000498079.1:n.*85+202_*85+204del
ENST00000649823.1:n.761_763del
ENST00000649868.1:c.*207-403_*207-401del	ENSP00000497548.1:n.*207-403_*207-401del
ENST00000650101.1:c.475_477del	ENSP00000496970.1:p.Glu159del
ENST00000650307.1:n.1370_1372del
ENST00000652429.1:c.544_546del MANE Select	ENSP00000498786.1:p.Glu182del
ENST00000278715.7:c.544_546del	ENSP00000278715.3:p.Glu182del
ENST00000392841.1:c.493_495del	ENSP00000376584.1:p.Glu165del
ENST00000442944.6:c.493_495del	ENSP00000392041.2:p.Glu165del
ENST00000534956.1:n.415-403_415-401del
ENST00000535253.5:c.493_495del	ENSP00000442079.1:p.Glu165del
ENST00000535793.5:c.*439_*441del	ENSP00000439904.1:n.*439_*441del
ENST00000537841.5:c.493_495del	ENSP00000444730.1:p.Glu165del
ENST00000539986.5:c.493_495del	ENSP00000440092.1:p.Glu165del
ENST00000542044.5:n.989_991del
ENST00000542345.5:n.682_684del
ENST00000542729.5:c.493_495del	ENSP00000443058.1:p.Glu165del
ENST00000542822.5:c.*480_*482del	ENSP00000444817.1:n.*480_*482del
ENST00000543090.5:c.490_492del	ENSP00000445429.1:p.Glu164del
ENST00000543543.5:n.779_781del
ENST00000544360.5:n.512_514del
ENST00000544387.5:c.544_546del	ENSP00000438424.1:p.Glu182del
ENST00000545621.5:c.*439_*441del	ENSP00000444849.1:n.*439_*441del
ENST00000546226.5:n.832_834del
ENST00000546302.5:c.466_468del	ENSP00000445599.1:p.Glu156del
NM_000190.3:c.544_546del	NP_000181.2:p.Glu182del
NM_001024382.1:c.493_495del	NP_001019553.1:p.Glu165del
NM_001258208.1:c.544_546del	NP_001245137.1:p.Glu182del
NM_001258209.1:c.493_495del	NP_001245138.1:p.Glu165del
XM_005271531.1:c.493_495del	XP_005271588.1:p.Glu165del
XM_005271532.1:c.493_495del	XP_005271589.1:p.Glu165del
XM_005271533.2:c.490_492del	XP_005271590.1:p.Glu164del
XM_011542796.1:c.379_381del	XP_011541098.1:p.Glu127del
NM_000190.4:c.544_546del MANE Select	NP_000181.2:p.Glu182del
NM_001024382.2:c.493_495del	NP_001019553.1:p.Glu165del
XM_005271533.3:c.490_492del	XP_005271590.1:p.Glu164del
XM_017017629.1:c.493_495del	XP_016873118.1:p.Glu165del
XM_024448460.1:c.490_492del	XP_024304228.1:p.Glu164del
NM_001258208.2:c.544_546del	NP_001245137.1:p.Glu182del
NM_001258209.2:c.493_495del	NP_001245138.1:p.Glu165del