Canonical Allele Identifier: CA2695215810

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091523dup , CM000673.2:g.119091523dup	GRCh38
NC_000011.9:g.118962233dup , CM000673.1:g.118962233dup	GRCh37
NC_000011.8:g.118467443dup	NCBI36
NG_008093.1:g.11647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.444dup	ENSP00000509288.1:p.Gln149AlafsTer6
ENST00000686690.1:n.1459dup
ENST00000691144.1:n.2350dup
ENST00000691249.1:n.1193dup
ENST00000442944.7:c.591dup	ENSP00000392041.3:p.Gln198AlafsTer6
ENST00000534956.2:n.448-338dup
ENST00000536813.6:c.558dup	ENSP00000438726.2:p.Gln187AlafsTer6
ENST00000546302.6:c.531dup	ENSP00000445599.1:p.Gln178AlafsTer6
ENST00000640813.1:c.448-338dup	ENSP00000491061.1:n.448-338dup
ENST00000648026.1:c.493-338dup	ENSP00000498044.1:n.493-338dup
ENST00000648374.1:c.558dup	ENSP00000497255.1:p.Gln187AlafsTer6
ENST00000648488.1:c.*85+267dup	ENSP00000498079.1:n.*85+267dup
ENST00000649823.1:n.826dup
ENST00000649868.1:c.*207-338dup	ENSP00000497548.1:n.*207-338dup
ENST00000650101.1:c.540dup	ENSP00000496970.1:p.Gln181AlafsTer6
ENST00000650307.1:n.1435dup
ENST00000652429.1:c.609dup MANE Select	ENSP00000498786.1:p.Gln204AlafsTer6
ENST00000278715.7:c.609dup	ENSP00000278715.3:p.Gln204AlafsTer6
ENST00000392841.1:c.558dup	ENSP00000376584.1:p.Gln187AlafsTer6
ENST00000442944.6:c.558dup	ENSP00000392041.2:p.Gln187AlafsTer6
ENST00000534956.1:n.415-338dup
ENST00000535253.5:c.558dup	ENSP00000442079.1:p.Gln187AlafsTer?
ENST00000535793.5:c.*504dup	ENSP00000439904.1:n.*504dup
ENST00000537841.5:c.558dup	ENSP00000444730.1:p.Gln187AlafsTer6
ENST00000539986.5:c.558dup	ENSP00000440092.1:p.Gln187AlafsTer?
ENST00000542044.5:n.1054dup
ENST00000542345.5:n.747dup
ENST00000542729.5:c.558dup	ENSP00000443058.1:p.Gln187AlafsTer6
ENST00000542822.5:c.*545dup	ENSP00000444817.1:n.*545dup
ENST00000543090.5:c.555dup	ENSP00000445429.1:p.Gln186AlafsTer?
ENST00000543543.5:n.844dup
ENST00000544360.5:n.577dup
ENST00000544387.5:c.609dup	ENSP00000438424.1:p.Gln204AlafsTer6
ENST00000545621.5:c.*504dup	ENSP00000444849.1:n.*504dup
ENST00000546226.5:n.897dup
ENST00000546302.5:c.531dup	ENSP00000445599.1:p.Gln178AlafsTer6
NM_000190.3:c.609dup	NP_000181.2:p.Gln204AlafsTer6
NM_001024382.1:c.558dup	NP_001019553.1:p.Gln187AlafsTer6
NM_001258208.1:c.609dup	NP_001245137.1:p.Gln204AlafsTer6
NM_001258209.1:c.558dup	NP_001245138.1:p.Gln187AlafsTer6
XM_005271531.1:c.558dup	XP_005271588.1:p.Gln187AlafsTer6
XM_005271532.1:c.558dup	XP_005271589.1:p.Gln187AlafsTer6
XM_005271533.2:c.555dup	XP_005271590.1:p.Gln186AlafsTer6
XM_011542796.1:c.444dup	XP_011541098.1:p.Gln149AlafsTer6
NM_000190.4:c.609dup MANE Select	NP_000181.2:p.Gln204AlafsTer6
NM_001024382.2:c.558dup	NP_001019553.1:p.Gln187AlafsTer6
XM_005271533.3:c.555dup	XP_005271590.1:p.Gln186AlafsTer6
XM_017017629.1:c.558dup	XP_016873118.1:p.Gln187AlafsTer6
XM_024448460.1:c.555dup	XP_024304228.1:p.Gln186AlafsTer6
NM_001258208.2:c.609dup	NP_001245137.1:p.Gln204AlafsTer6
NM_001258209.2:c.558dup	NP_001245138.1:p.Gln187AlafsTer6