Canonical Allele Identifier: CA2695215815

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092144dup , CM000673.2:g.119092144dup	GRCh38
NC_000011.9:g.118962854dup , CM000673.1:g.118962854dup	GRCh37
NC_000011.8:g.118468064dup	NCBI36
NG_008093.1:g.12268dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.467dup	ENSP00000509288.1:p.Cys156TrpfsTer?
ENST00000691144.1:n.2373dup
ENST00000691249.1:n.1216dup
ENST00000442944.7:c.614dup	ENSP00000392041.3:p.Cys205TrpfsTer?
ENST00000536813.6:c.581dup	ENSP00000438726.2:p.Cys194TrpfsTer?
ENST00000546302.6:c.554dup	ENSP00000445599.1:p.Cys185TrpfsTer?
ENST00000640813.1:c.462-260dup	ENSP00000491061.1:n.462-260dup
ENST00000648026.1:c.526dup	ENSP00000498044.1:p.Ala176GlyfsTer?
ENST00000648374.1:c.581dup	ENSP00000497255.1:p.Cys194TrpfsTer?
ENST00000648488.1:c.*105dup	ENSP00000498079.1:n.*105dup
ENST00000649823.1:n.849dup
ENST00000650101.1:c.563dup	ENSP00000496970.1:p.Cys188TrpfsTer?
ENST00000650307.1:n.1458dup
ENST00000652429.1:c.632dup MANE Select	ENSP00000498786.1:p.Cys211TrpfsTer?
ENST00000278715.7:c.632dup	ENSP00000278715.3:p.Cys211TrpfsTer?
ENST00000392841.1:c.581dup	ENSP00000376584.1:p.Cys194TrpfsTer?
ENST00000442944.6:c.581dup	ENSP00000392041.2:p.Cys194TrpfsTer?
ENST00000537841.5:c.581dup	ENSP00000444730.1:p.Cys194TrpfsTer?
ENST00000542044.5:n.1077dup
ENST00000542345.5:n.770dup
ENST00000542729.5:c.581dup	ENSP00000443058.1:p.Cys194TrpfsTer?
ENST00000543090.5:c.559-260dup	ENSP00000445429.1:n.559-260dup
ENST00000543543.5:n.867dup
ENST00000544182.1:n.607dup
ENST00000544387.5:c.632dup	ENSP00000438424.1:p.Cys211TrpfsTer?
ENST00000545621.5:c.*527dup	ENSP00000444849.1:n.*527dup
ENST00000546226.5:n.920dup
ENST00000546302.5:c.554dup	ENSP00000445599.1:p.Cys185TrpfsTer?
NM_000190.3:c.632dup	NP_000181.2:p.Cys211TrpfsTer?
NM_001024382.1:c.581dup	NP_001019553.1:p.Cys194TrpfsTer?
NM_001258208.1:c.632dup	NP_001245137.1:p.Cys211TrpfsTer?
NM_001258209.1:c.581dup	NP_001245138.1:p.Cys194TrpfsTer?
XM_005271531.1:c.581dup	XP_005271588.1:p.Cys194TrpfsTer?
XM_005271532.1:c.581dup	XP_005271589.1:p.Cys194TrpfsTer?
XM_005271533.2:c.578dup	XP_005271590.1:p.Cys193TrpfsTer?
XM_011542796.1:c.467dup	XP_011541098.1:p.Cys156TrpfsTer?
NM_000190.4:c.632dup MANE Select	NP_000181.2:p.Cys211TrpfsTer?
NM_001024382.2:c.581dup	NP_001019553.1:p.Cys194TrpfsTer?
XM_005271533.3:c.578dup	XP_005271590.1:p.Cys193TrpfsTer?
XM_017017629.1:c.581dup	XP_016873118.1:p.Cys194TrpfsTer?
XM_024448460.1:c.578dup	XP_024304228.1:p.Cys193TrpfsTer?
NM_001258208.2:c.632dup	NP_001245137.1:p.Cys211TrpfsTer?
NM_001258209.2:c.581dup	NP_001245138.1:p.Cys194TrpfsTer?