Canonical Allele Identifier: CA2695215757

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089756dup , CM000673.2:g.119089756dup	GRCh38
NC_000011.9:g.118960466dup , CM000673.1:g.118960466dup	GRCh37
NC_000011.8:g.118465676dup	NCBI36
NG_008093.1:g.9880dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.175dup	ENSP00000509288.1:p.Cys59LeufsTer8
ENST00000686690.1:n.961dup
ENST00000691144.1:n.2081dup
ENST00000691249.1:n.924dup
ENST00000442944.7:c.322dup	ENSP00000392041.3:p.Cys108LeufsTer8
ENST00000534956.2:n.289dup
ENST00000536813.6:c.289dup	ENSP00000438726.2:p.Cys97LeufsTer8
ENST00000546302.6:c.267-234dup	ENSP00000445599.1:n.267-234dup
ENST00000640813.1:c.289dup	ENSP00000491061.1:p.Cys97LeufsTer8
ENST00000648026.1:c.334dup	ENSP00000498044.1:p.Cys112LeufsTer8
ENST00000648374.1:c.289dup	ENSP00000497255.1:p.Cys97LeufsTer8
ENST00000648488.1:c.289dup	ENSP00000498079.1:p.Cys97LeufsTer8
ENST00000649823.1:n.557dup
ENST00000649868.1:c.*48dup	ENSP00000497548.1:n.*48dup
ENST00000650101.1:c.271dup	ENSP00000496970.1:p.Cys91LeufsTer8
ENST00000650307.1:n.1166dup
ENST00000652429.1:c.340dup MANE Select	ENSP00000498786.1:p.Cys114LeufsTer8
ENST00000278715.7:c.340dup	ENSP00000278715.3:p.Cys114LeufsTer8
ENST00000392841.1:c.289dup	ENSP00000376584.1:p.Cys97LeufsTer8
ENST00000442944.6:c.289dup	ENSP00000392041.2:p.Cys97LeufsTer8
ENST00000534956.1:n.256dup
ENST00000535253.5:c.289dup	ENSP00000442079.1:p.Cys97LeufsTer8
ENST00000535793.5:c.*235dup	ENSP00000439904.1:n.*235dup
ENST00000536813.5:c.322dup	ENSP00000438726.1:p.Cys108LeufsTer8
ENST00000537841.5:c.289dup	ENSP00000444730.1:p.Cys97LeufsTer8
ENST00000539986.5:c.289dup	ENSP00000440092.1:p.Cys97LeufsTer8
ENST00000542044.5:n.785dup
ENST00000542345.5:n.478dup
ENST00000542729.5:c.289dup	ENSP00000443058.1:p.Cys97LeufsTer8
ENST00000542822.5:c.*276dup	ENSP00000444817.1:n.*276dup
ENST00000543090.5:c.286dup	ENSP00000445429.1:p.Cys96LeufsTer8
ENST00000543543.5:n.575dup
ENST00000543821.5:n.486dup
ENST00000544360.5:n.308dup
ENST00000544387.5:c.340dup	ENSP00000438424.1:p.Cys114LeufsTer8
ENST00000545621.5:c.*235dup	ENSP00000444849.1:n.*235dup
ENST00000546226.5:n.399dup
ENST00000546302.5:c.267-234dup	ENSP00000445599.1:n.267-234dup
NM_000190.3:c.340dup	NP_000181.2:p.Cys114LeufsTer8
NM_001024382.1:c.289dup	NP_001019553.1:p.Cys97LeufsTer8
NM_001258208.1:c.340dup	NP_001245137.1:p.Cys114LeufsTer8
NM_001258209.1:c.289dup	NP_001245138.1:p.Cys97LeufsTer8
XM_005271531.1:c.289dup	XP_005271588.1:p.Cys97LeufsTer8
XM_005271532.1:c.289dup	XP_005271589.1:p.Cys97LeufsTer8
XM_005271533.2:c.286dup	XP_005271590.1:p.Cys96LeufsTer8
XM_011542796.1:c.175dup	XP_011541098.1:p.Cys59LeufsTer8
NM_000190.4:c.340dup MANE Select	NP_000181.2:p.Cys114LeufsTer8
NM_001024382.2:c.289dup	NP_001019553.1:p.Cys97LeufsTer8
XM_005271533.3:c.286dup	XP_005271590.1:p.Cys96LeufsTer8
XM_017017629.1:c.289dup	XP_016873118.1:p.Cys97LeufsTer8
XM_024448460.1:c.286dup	XP_024304228.1:p.Cys96LeufsTer8
NM_001258208.2:c.340dup	NP_001245137.1:p.Cys114LeufsTer8
NM_001258209.2:c.289dup	NP_001245138.1:p.Cys97LeufsTer8