Canonical Allele Identifier: CA2695215774

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093260dup , CM000673.2:g.119093260dup	GRCh38
NC_000011.9:g.118963970dup , CM000673.1:g.118963970dup	GRCh37
NC_000011.8:g.118469180dup	NCBI36
NG_008093.1:g.13384dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.898dup	ENSP00000509288.1:p.Arg300ProfsTer4
ENST00000691144.1:n.3278dup
ENST00000691249.1:n.1887dup
ENST00000442944.7:c.1045dup	ENSP00000392041.3:p.Arg349ProfsTer4
ENST00000640813.1:c.*300dup	ENSP00000491061.1:n.*300dup
ENST00000648026.1:c.957dup	ENSP00000498044.1:n.957dup
ENST00000648374.1:c.1012dup	ENSP00000497255.1:p.Arg338ProfsTer4
ENST00000650101.1:c.994dup	ENSP00000496970.1:p.Arg332ProfsTer4
ENST00000650307.1:n.1889dup
ENST00000652429.1:c.1063dup MANE Select	ENSP00000498786.1:p.Arg355ProfsTer4
ENST00000278715.7:c.1063dup	ENSP00000278715.3:p.Arg355ProfsTer4
ENST00000392841.1:c.1012dup	ENSP00000376584.1:p.Arg338ProfsTer4
ENST00000442944.6:c.1012dup	ENSP00000392041.2:p.Arg338ProfsTer4
ENST00000537841.5:c.1012dup	ENSP00000444730.1:p.Arg338ProfsTer4
ENST00000539045.1:n.562dup
ENST00000542044.5:n.1508dup
ENST00000542729.5:c.892dup	ENSP00000443058.1:p.Arg298ProfsTer4
ENST00000543090.5:c.970dup	ENSP00000445429.1:p.Arg324ProfsTer4
ENST00000543543.5:n.1538dup
ENST00000544182.1:n.1512dup
ENST00000544387.5:c.943dup	ENSP00000438424.1:p.Arg315ProfsTer4
ENST00000546226.5:n.1825dup
NM_000190.3:c.1063dup	NP_000181.2:p.Arg355ProfsTer4
NM_001024382.1:c.1012dup	NP_001019553.1:p.Arg338ProfsTer4
NM_001258208.1:c.943dup	NP_001245137.1:p.Arg315ProfsTer4
NM_001258209.1:c.892dup	NP_001245138.1:p.Arg298ProfsTer4
XM_005271531.1:c.1012dup	XP_005271588.1:p.Arg338ProfsTer4
XM_005271532.1:c.1012dup	XP_005271589.1:p.Arg338ProfsTer4
XM_005271533.2:c.1009dup	XP_005271590.1:p.Arg337ProfsTer4
XM_011542796.1:c.898dup	XP_011541098.1:p.Arg300ProfsTer4
NM_000190.4:c.1063dup MANE Select	NP_000181.2:p.Arg355ProfsTer4
NM_001024382.2:c.1012dup	NP_001019553.1:p.Arg338ProfsTer4
XM_005271533.3:c.1009dup	XP_005271590.1:p.Arg337ProfsTer4
XM_017017629.1:c.1012dup	XP_016873118.1:p.Arg338ProfsTer4
XM_024448460.1:c.889dup	XP_024304228.1:p.Arg297ProfsTer4
NM_001258208.2:c.943dup	NP_001245137.1:p.Arg315ProfsTer4
NM_001258209.2:c.892dup	NP_001245138.1:p.Arg298ProfsTer4