Canonical Allele Identifier: CA2695215765

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093201del , CM000673.2:g.119093201del	GRCh38
NC_000011.9:g.118963911del , CM000673.1:g.118963911del	GRCh37
NC_000011.8:g.118469121del	NCBI36
NG_008093.1:g.13325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.839del	ENSP00000509288.1:p.Gly280AlafsTer9
ENST00000691144.1:n.3219del
ENST00000691249.1:n.1828del
ENST00000442944.7:c.986del	ENSP00000392041.3:p.Gly329AlafsTer9
ENST00000640813.1:c.*241del	ENSP00000491061.1:n.*241del
ENST00000648026.1:c.898del	ENSP00000498044.1:n.898del
ENST00000648374.1:c.953del	ENSP00000497255.1:p.Gly318AlafsTer9
ENST00000650101.1:c.935del	ENSP00000496970.1:p.Gly312AlafsTer9
ENST00000650307.1:n.1830del
ENST00000652429.1:c.1004del MANE Select	ENSP00000498786.1:p.Gly335AlafsTer9
ENST00000278715.7:c.1004del	ENSP00000278715.3:p.Gly335AlafsTer9
ENST00000392841.1:c.953del	ENSP00000376584.1:p.Gly318AlafsTer9
ENST00000442944.6:c.953del	ENSP00000392041.2:p.Gly318AlafsTer9
ENST00000537841.5:c.953del	ENSP00000444730.1:p.Gly318AlafsTer9
ENST00000539045.1:n.503del
ENST00000542044.5:n.1449del
ENST00000542729.5:c.833del	ENSP00000443058.1:p.Gly278AlafsTer9
ENST00000543090.5:c.911del	ENSP00000445429.1:p.Gly304AlafsTer9
ENST00000543543.5:n.1479del
ENST00000544182.1:n.1453del
ENST00000544387.5:c.884del	ENSP00000438424.1:p.Gly295AlafsTer9
ENST00000546226.5:n.1766del
NM_000190.3:c.1004del	NP_000181.2:p.Gly335AlafsTer9
NM_001024382.1:c.953del	NP_001019553.1:p.Gly318AlafsTer9
NM_001258208.1:c.884del	NP_001245137.1:p.Gly295AlafsTer9
NM_001258209.1:c.833del	NP_001245138.1:p.Gly278AlafsTer9
XM_005271531.1:c.953del	XP_005271588.1:p.Gly318AlafsTer9
XM_005271532.1:c.953del	XP_005271589.1:p.Gly318AlafsTer9
XM_005271533.2:c.950del	XP_005271590.1:p.Gly317AlafsTer9
XM_011542796.1:c.839del	XP_011541098.1:p.Gly280AlafsTer9
NM_000190.4:c.1004del MANE Select	NP_000181.2:p.Gly335AlafsTer9
NM_001024382.2:c.953del	NP_001019553.1:p.Gly318AlafsTer9
XM_005271533.3:c.950del	XP_005271590.1:p.Gly317AlafsTer9
XM_017017629.1:c.953del	XP_016873118.1:p.Gly318AlafsTer9
XM_024448460.1:c.830del	XP_024304228.1:p.Gly277AlafsTer9
NM_001258208.2:c.884del	NP_001245137.1:p.Gly295AlafsTer9
NM_001258209.2:c.833del	NP_001245138.1:p.Gly278AlafsTer9