Canonical Allele Identifier: CA2616355535

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093253-T-TGTTGCACGGCAGCTTAACGATGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093254_119093278dup , CM000673.2:g.119093254_119093278dup	GRCh38
NC_000011.9:g.118963964_118963988dup , CM000673.1:g.118963964_118963988dup	GRCh37
NC_000011.8:g.118469174_118469198dup	NCBI36
NG_008093.1:g.13378_13402dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.892_916dup	ENSP00000509288.1:p.His306ArgfsTer6
ENST00000691144.1:n.3272_3296dup
ENST00000691249.1:n.1881_1905dup
ENST00000442944.7:c.1039_1063dup	ENSP00000392041.3:p.His355ArgfsTer6
ENST00000640813.1:c.*294_*318dup	ENSP00000491061.1:n.*294_*318dup
ENST00000648026.1:c.951_975dup	ENSP00000498044.1:n.951_975dup
ENST00000648374.1:c.1006_1030dup	ENSP00000497255.1:p.His344ArgfsTer6
ENST00000650101.1:c.988_1012dup	ENSP00000496970.1:p.His338ArgfsTer6
ENST00000650307.1:n.1883_1907dup
ENST00000652429.1:c.1057_1081dup MANE Select	ENSP00000498786.1:p.His361ArgfsTer6
ENST00000278715.7:c.1057_1081dup	ENSP00000278715.3:p.His361ArgfsTer6
ENST00000392841.1:c.1006_1030dup	ENSP00000376584.1:p.His344ArgfsTer6
ENST00000442944.6:c.1006_1030dup	ENSP00000392041.2:p.His344ArgfsTer6
ENST00000537841.5:c.1006_1030dup	ENSP00000444730.1:p.His344ArgfsTer6
ENST00000539045.1:n.556_580dup
ENST00000542044.5:n.1502_1526dup
ENST00000542729.5:c.886_910dup	ENSP00000443058.1:p.His304ArgfsTer6
ENST00000543090.5:c.964_988dup	ENSP00000445429.1:p.His330ArgfsTer6
ENST00000543543.5:n.1532_1556dup
ENST00000544182.1:n.1506_1530dup
ENST00000544387.5:c.937_961dup	ENSP00000438424.1:p.His321ArgfsTer6
ENST00000546226.5:n.1819_1843dup
NM_000190.3:c.1057_1081dup	NP_000181.2:p.His361ArgfsTer6
NM_001024382.1:c.1006_1030dup	NP_001019553.1:p.His344ArgfsTer6
NM_001258208.1:c.937_961dup	NP_001245137.1:p.His321ArgfsTer6
NM_001258209.1:c.886_910dup	NP_001245138.1:p.His304ArgfsTer6
XM_005271531.1:c.1006_1030dup	XP_005271588.1:p.His344ArgfsTer6
XM_005271532.1:c.1006_1030dup	XP_005271589.1:p.His344ArgfsTer6
XM_005271533.2:c.1003_1027dup	XP_005271590.1:p.His343ArgfsTer6
XM_011542796.1:c.892_916dup	XP_011541098.1:p.His306ArgfsTer6
NM_000190.4:c.1057_1081dup MANE Select	NP_000181.2:p.His361ArgfsTer6
NM_001024382.2:c.1006_1030dup	NP_001019553.1:p.His344ArgfsTer6
XM_005271533.3:c.1003_1027dup	XP_005271590.1:p.His343ArgfsTer6
XM_017017629.1:c.1006_1030dup	XP_016873118.1:p.His344ArgfsTer6
XM_024448460.1:c.883_907dup	XP_024304228.1:p.His303ArgfsTer6
NM_001258208.2:c.937_961dup	NP_001245137.1:p.His321ArgfsTer6
NM_001258209.2:c.886_910dup	NP_001245138.1:p.His304ArgfsTer6