Canonical Allele Identifier: CA915947799

Gene: HMBS

Linked Data

• ClinVar Variation Id: 657255
• ClinVar RCV Id: RCV000813830
• dbSNP Id: rs1592215117

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089739del , CM000673.2:g.119089739del	GRCh38
NC_000011.9:g.118960449del , CM000673.1:g.118960449del	GRCh37
NC_000011.8:g.118465659del	NCBI36
NG_008093.1:g.9863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.158del	ENSP00000509288.1:p.Phe53SerfsTer27
ENST00000686690.1:n.944del
ENST00000691144.1:n.2064del
ENST00000691249.1:n.907del
ENST00000442944.7:c.305del	ENSP00000392041.3:p.Phe102SerfsTer27
ENST00000534956.2:n.272del
ENST00000536813.6:c.272del	ENSP00000438726.2:p.Phe91SerfsTer27
ENST00000546302.6:c.267-251del	ENSP00000445599.1:n.267-251del
ENST00000640813.1:c.272del	ENSP00000491061.1:p.Phe91SerfsTer27
ENST00000648026.1:c.317del	ENSP00000498044.1:p.Phe106SerfsTer27
ENST00000648374.1:c.272del	ENSP00000497255.1:p.Phe91SerfsTer27
ENST00000648488.1:c.272del	ENSP00000498079.1:p.Phe91SerfsTer27
ENST00000649823.1:n.540del
ENST00000649868.1:c.*31del	ENSP00000497548.1:n.*31del
ENST00000650101.1:c.254del	ENSP00000496970.1:p.Phe85SerfsTer27
ENST00000650307.1:n.1149del
ENST00000652429.1:c.323del MANE Select	ENSP00000498786.1:p.Phe108SerfsTer27
ENST00000278715.7:c.323del	ENSP00000278715.3:p.Phe108SerfsTer27
ENST00000392841.1:c.272del	ENSP00000376584.1:p.Phe91SerfsTer27
ENST00000442944.6:c.272del	ENSP00000392041.2:p.Phe91SerfsTer27
ENST00000534956.1:n.239del
ENST00000535253.5:c.272del	ENSP00000442079.1:p.Phe91SerfsTer27
ENST00000535793.5:c.*218del	ENSP00000439904.1:n.*218del
ENST00000536185.5:n.441del
ENST00000536813.5:c.305del	ENSP00000438726.1:p.Phe102SerfsTer?
ENST00000537841.5:c.272del	ENSP00000444730.1:p.Phe91SerfsTer27
ENST00000539986.5:c.272del	ENSP00000440092.1:p.Phe91SerfsTer27
ENST00000542044.5:n.768del
ENST00000542345.5:n.461del
ENST00000542729.5:c.272del	ENSP00000443058.1:p.Phe91SerfsTer27
ENST00000542822.5:c.*259del	ENSP00000444817.1:n.*259del
ENST00000543090.5:c.269del	ENSP00000445429.1:p.Phe90SerfsTer27
ENST00000543543.5:n.558del
ENST00000543821.5:n.469del
ENST00000544360.5:n.291del
ENST00000544387.5:c.323del	ENSP00000438424.1:p.Phe108SerfsTer27
ENST00000545621.5:c.*218del	ENSP00000444849.1:n.*218del
ENST00000546226.5:n.382del
ENST00000546302.5:c.267-251del	ENSP00000445599.1:n.267-251del
NM_000190.3:c.323del	NP_000181.2:p.Phe108SerfsTer27
NM_001024382.1:c.272del	NP_001019553.1:p.Phe91SerfsTer27
NM_001258208.1:c.323del	NP_001245137.1:p.Phe108SerfsTer27
NM_001258209.1:c.272del	NP_001245138.1:p.Phe91SerfsTer27
XM_005271531.1:c.272del	XP_005271588.1:p.Phe91SerfsTer27
XM_005271532.1:c.272del	XP_005271589.1:p.Phe91SerfsTer27
XM_005271533.2:c.269del	XP_005271590.1:p.Phe90SerfsTer27
XM_011542796.1:c.158del	XP_011541098.1:p.Phe53SerfsTer27
NM_000190.4:c.323del MANE Select	NP_000181.2:p.Phe108SerfsTer27
NM_001024382.2:c.272del	NP_001019553.1:p.Phe91SerfsTer27
XM_005271533.3:c.269del	XP_005271590.1:p.Phe90SerfsTer27
XM_017017629.1:c.272del	XP_016873118.1:p.Phe91SerfsTer27
XM_024448460.1:c.269del	XP_024304228.1:p.Phe90SerfsTer27
NM_001258208.2:c.323del	NP_001245137.1:p.Phe108SerfsTer27
NM_001258209.2:c.272del	NP_001245138.1:p.Phe91SerfsTer27