Canonical Allele Identifier: CA2616354593

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092044-A-ATAGGGAACTCCCATCTCACTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092045_119092065dup , CM000673.2:g.119092045_119092065dup	GRCh38
NC_000011.9:g.118962755_118962775dup , CM000673.1:g.118962755_118962775dup	GRCh37
NC_000011.8:g.118467965_118467985dup	NCBI36
NG_008093.1:g.12169_12189dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.448-80_448-60dup	ENSP00000509288.1:n.448-80_448-60dup
ENST00000691144.1:n.2354-80_2354-60dup
ENST00000691249.1:n.1197-80_1197-60dup
ENST00000442944.7:c.595-80_595-60dup	ENSP00000392041.3:n.595-80_595-60dup
ENST00000536813.6:c.562-80_562-60dup	ENSP00000438726.2:n.562-80_562-60dup
ENST00000546302.6:c.535-80_535-60dup	ENSP00000445599.1:n.535-80_535-60dup
ENST00000640813.1:c.461+171_461+191dup	ENSP00000491061.1:n.461+171_461+191dup
ENST00000648026.1:c.507-80_507-60dup	ENSP00000498044.1:n.507-80_507-60dup
ENST00000648374.1:c.562-80_562-60dup	ENSP00000497255.1:n.562-80_562-60dup
ENST00000648488.1:c.*86-80_*86-60dup	ENSP00000498079.1:n.*86-80_*86-60dup
ENST00000649823.1:n.830-80_830-60dup
ENST00000650101.1:c.544-80_544-60dup	ENSP00000496970.1:n.544-80_544-60dup
ENST00000650307.1:n.1439-80_1439-60dup
ENST00000652429.1:c.613-80_613-60dup MANE Select	ENSP00000498786.1:n.613-80_613-60dup
ENST00000278715.7:c.613-80_613-60dup	ENSP00000278715.3:n.613-80_613-60dup
ENST00000392841.1:c.562-80_562-60dup	ENSP00000376584.1:n.562-80_562-60dup
ENST00000442944.6:c.562-80_562-60dup	ENSP00000392041.2:n.562-80_562-60dup
ENST00000537841.5:c.562-80_562-60dup	ENSP00000444730.1:n.562-80_562-60dup
ENST00000542044.5:n.1058-80_1058-60dup
ENST00000542345.5:n.751-80_751-60dup
ENST00000542729.5:c.562-80_562-60dup	ENSP00000443058.1:n.562-80_562-60dup
ENST00000543090.5:c.559-359_559-339dup	ENSP00000445429.1:n.559-359_559-339dup
ENST00000543543.5:n.848-80_848-60dup
ENST00000544182.1:n.508_528dup
ENST00000544387.5:c.613-80_613-60dup	ENSP00000438424.1:n.613-80_613-60dup
ENST00000545621.5:c.*508-80_*508-60dup	ENSP00000444849.1:n.*508-80_*508-60dup
ENST00000546226.5:n.901-80_901-60dup
ENST00000546302.5:c.535-80_535-60dup	ENSP00000445599.1:n.535-80_535-60dup
NM_000190.3:c.613-80_613-60dup	NP_000181.2:n.613-80_613-60dup
NM_001024382.1:c.562-80_562-60dup	NP_001019553.1:n.562-80_562-60dup
NM_001258208.1:c.613-80_613-60dup	NP_001245137.1:n.613-80_613-60dup
NM_001258209.1:c.562-80_562-60dup	NP_001245138.1:n.562-80_562-60dup
XM_005271531.1:c.562-80_562-60dup	XP_005271588.1:n.562-80_562-60dup
XM_005271532.1:c.562-80_562-60dup	XP_005271589.1:n.562-80_562-60dup
XM_005271533.2:c.559-80_559-60dup	XP_005271590.1:n.559-80_559-60dup
XM_011542796.1:c.448-80_448-60dup	XP_011541098.1:n.448-80_448-60dup
NM_000190.4:c.613-80_613-60dup MANE Select	NP_000181.2:n.613-80_613-60dup
NM_001024382.2:c.562-80_562-60dup	NP_001019553.1:n.562-80_562-60dup
XM_005271533.3:c.559-80_559-60dup	XP_005271590.1:n.559-80_559-60dup
XM_017017629.1:c.562-80_562-60dup	XP_016873118.1:n.562-80_562-60dup
XM_024448460.1:c.559-80_559-60dup	XP_024304228.1:n.559-80_559-60dup
NM_001258208.2:c.613-80_613-60dup	NP_001245137.1:n.613-80_613-60dup
NM_001258209.2:c.562-80_562-60dup	NP_001245138.1:n.562-80_562-60dup