Canonical Allele Identifier: CA2616354665

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092144-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092145dup , CM000673.2:g.119092145dup	GRCh38
NC_000011.9:g.118962855dup , CM000673.1:g.118962855dup	GRCh37
NC_000011.8:g.118468065dup	NCBI36
NG_008093.1:g.12269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.468dup	ENSP00000509288.1:p.Met157HisfsTer?
ENST00000691144.1:n.2374dup
ENST00000691249.1:n.1217dup
ENST00000442944.7:c.615dup	ENSP00000392041.3:p.Met206HisfsTer?
ENST00000536813.6:c.582dup	ENSP00000438726.2:p.Met195HisfsTer?
ENST00000546302.6:c.555dup	ENSP00000445599.1:p.Met186HisfsTer?
ENST00000640813.1:c.462-259dup	ENSP00000491061.1:n.462-259dup
ENST00000648026.1:c.527dup	ENSP00000498044.1:p.Cys177MetfsTer?
ENST00000648374.1:c.582dup	ENSP00000497255.1:p.Met195HisfsTer?
ENST00000648488.1:c.*106dup	ENSP00000498079.1:n.*106dup
ENST00000649823.1:n.850dup
ENST00000650101.1:c.564dup	ENSP00000496970.1:p.Met189HisfsTer?
ENST00000650307.1:n.1459dup
ENST00000652429.1:c.633dup MANE Select	ENSP00000498786.1:p.Met212HisfsTer?
ENST00000278715.7:c.633dup	ENSP00000278715.3:p.Met212HisfsTer?
ENST00000392841.1:c.582dup	ENSP00000376584.1:p.Met195HisfsTer?
ENST00000442944.6:c.582dup	ENSP00000392041.2:p.Met195HisfsTer?
ENST00000537841.5:c.582dup	ENSP00000444730.1:p.Met195HisfsTer?
ENST00000542044.5:n.1078dup
ENST00000542345.5:n.771dup
ENST00000542729.5:c.582dup	ENSP00000443058.1:p.Met195HisfsTer?
ENST00000543090.5:c.559-259dup	ENSP00000445429.1:n.559-259dup
ENST00000543543.5:n.868dup
ENST00000544182.1:n.608dup
ENST00000544387.5:c.633dup	ENSP00000438424.1:p.Met212HisfsTer?
ENST00000545621.5:c.*528dup	ENSP00000444849.1:n.*528dup
ENST00000546226.5:n.921dup
ENST00000546302.5:c.555dup	ENSP00000445599.1:p.Met186HisfsTer?
NM_000190.3:c.633dup	NP_000181.2:p.Met212HisfsTer?
NM_001024382.1:c.582dup	NP_001019553.1:p.Met195HisfsTer?
NM_001258208.1:c.633dup	NP_001245137.1:p.Met212HisfsTer?
NM_001258209.1:c.582dup	NP_001245138.1:p.Met195HisfsTer?
XM_005271531.1:c.582dup	XP_005271588.1:p.Met195HisfsTer?
XM_005271532.1:c.582dup	XP_005271589.1:p.Met195HisfsTer?
XM_005271533.2:c.579dup	XP_005271590.1:p.Met194HisfsTer?
XM_011542796.1:c.468dup	XP_011541098.1:p.Met157HisfsTer?
NM_000190.4:c.633dup MANE Select	NP_000181.2:p.Met212HisfsTer?
NM_001024382.2:c.582dup	NP_001019553.1:p.Met195HisfsTer?
XM_005271533.3:c.579dup	XP_005271590.1:p.Met194HisfsTer?
XM_017017629.1:c.582dup	XP_016873118.1:p.Met195HisfsTer?
XM_024448460.1:c.579dup	XP_024304228.1:p.Met194HisfsTer?
NM_001258208.2:c.633dup	NP_001245137.1:p.Met212HisfsTer?
NM_001258209.2:c.582dup	NP_001245138.1:p.Met195HisfsTer?