Canonical Allele Identifier: CA2695215709

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119088680del , CM000673.2:g.119088680del	GRCh38
NC_000011.9:g.118959390del , CM000673.1:g.118959390del	GRCh37
NC_000011.8:g.118464600del	NCBI36
NG_008093.1:g.8804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-33del	ENSP00000509288.1:n.-33del
ENST00000686690.1:n.295del
ENST00000691144.1:n.1415del
ENST00000691249.1:n.717del
ENST00000442944.7:c.133del	ENSP00000392041.3:p.Ser45ArgfsTer?
ENST00000534956.2:n.82del
ENST00000536813.6:c.82del	ENSP00000438726.2:p.Ser28ArgfsTer?
ENST00000546302.6:c.133del	ENSP00000445599.1:p.Ser45ArgfsTer?
ENST00000640813.1:c.82del	ENSP00000491061.1:p.Ser28ArgfsTer?
ENST00000648026.1:c.127del	ENSP00000498044.1:p.Ser43ArgfsTer?
ENST00000648374.1:c.82del	ENSP00000497255.1:p.Ser28ArgfsTer?
ENST00000648488.1:c.82del	ENSP00000498079.1:p.Ser28ArgfsTer?
ENST00000649823.1:n.350del
ENST00000649868.1:c.34-420del	ENSP00000497548.1:n.34-420del
ENST00000650101.1:c.82del	ENSP00000496970.1:p.Ser28ArgfsTer?
ENST00000650307.1:n.585del
ENST00000652429.1:c.133del MANE Select	ENSP00000498786.1:p.Ser45ArgfsTer?
ENST00000278715.7:c.133del	ENSP00000278715.3:p.Ser45ArgfsTer?
ENST00000392841.1:c.82del	ENSP00000376584.1:p.Ser28ArgfsTer?
ENST00000442944.6:c.82del	ENSP00000392041.2:p.Ser28ArgfsTer?
ENST00000534956.1:n.49del
ENST00000535253.5:c.82del	ENSP00000442079.1:p.Ser28ArgfsTer?
ENST00000535793.5:c.79del	ENSP00000439904.1:p.Ser27ArgfsTer19
ENST00000536185.5:n.301del
ENST00000536813.5:c.133del	ENSP00000438726.1:p.Ser45ArgfsTer?
ENST00000537841.5:c.82del	ENSP00000444730.1:p.Ser28ArgfsTer?
ENST00000539986.5:c.82del	ENSP00000440092.1:p.Ser28ArgfsTer?
ENST00000542044.5:n.204del
ENST00000542345.5:n.271del
ENST00000542729.5:c.82del	ENSP00000443058.1:p.Ser28ArgfsTer?
ENST00000542822.5:c.224del	ENSP00000444817.1:p.Leu75ProfsTer?
ENST00000543090.5:c.79del	ENSP00000445429.1:p.Ser27ArgfsTer?
ENST00000543543.5:n.368del
ENST00000543821.5:n.279del
ENST00000544360.5:n.101del
ENST00000544387.5:c.133del	ENSP00000438424.1:p.Ser45ArgfsTer?
ENST00000545621.5:c.133del	ENSP00000444849.1:p.Ser45ArgfsTer19
ENST00000545901.5:n.286del
ENST00000546226.5:n.192del
ENST00000546302.5:c.133del	ENSP00000445599.1:p.Ser45ArgfsTer?
NM_000190.3:c.133del	NP_000181.2:p.Ser45ArgfsTer?
NM_001024382.1:c.82del	NP_001019553.1:p.Ser28ArgfsTer?
NM_001258208.1:c.133del	NP_001245137.1:p.Ser45ArgfsTer?
NM_001258209.1:c.82del	NP_001245138.1:p.Ser28ArgfsTer?
XM_005271531.1:c.82del	XP_005271588.1:p.Ser28ArgfsTer?
XM_005271532.1:c.82del	XP_005271589.1:p.Ser28ArgfsTer?
XM_005271533.2:c.79del	XP_005271590.1:p.Ser27ArgfsTer?
XM_011542796.1:c.-33del	XP_011541098.1:n.-33del
NM_000190.4:c.133del MANE Select	NP_000181.2:p.Ser45ArgfsTer?
NM_001024382.2:c.82del	NP_001019553.1:p.Ser28ArgfsTer?
XM_005271533.3:c.79del	XP_005271590.1:p.Ser27ArgfsTer?
XM_017017629.1:c.82del	XP_016873118.1:p.Ser28ArgfsTer?
XM_024448460.1:c.79del	XP_024304228.1:p.Ser27ArgfsTer?
NM_001258208.2:c.133del	NP_001245137.1:p.Ser45ArgfsTer?
NM_001258209.2:c.82del	NP_001245138.1:p.Ser28ArgfsTer?