Canonical Allele Identifier: CA602168372

Gene: HMBS

Linked Data

• dbSNP Id: rs1359742005
• gnomAD v2: 11-118959379-C-CA
• gnomAD v4: 11-119088669-C-CA
• MyVariant Identifiers: chr11:g.118959379_118959380insA (hg19) ; chr11:g.119088669_119088670insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119088670dup , CM000673.2:g.119088670dup	GRCh38
NC_000011.9:g.118959380dup , CM000673.1:g.118959380dup	GRCh37
NC_000011.8:g.118464590dup	NCBI36
NG_008093.1:g.8794dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-43dup	ENSP00000509288.1:n.-43dup
ENST00000686690.1:n.285dup
ENST00000691144.1:n.1405dup
ENST00000691249.1:n.707dup
ENST00000442944.7:c.123dup	ENSP00000392041.3:p.Leu42IlefsTer11
ENST00000534956.2:n.72dup
ENST00000536813.6:c.72dup	ENSP00000438726.2:p.Leu25IlefsTer11
ENST00000546302.6:c.123dup	ENSP00000445599.1:p.Leu42IlefsTer11
ENST00000640813.1:c.72dup	ENSP00000491061.1:p.Leu25IlefsTer11
ENST00000648026.1:c.117dup	ENSP00000498044.1:p.Leu40IlefsTer11
ENST00000648374.1:c.72dup	ENSP00000497255.1:p.Leu25IlefsTer11
ENST00000648488.1:c.72dup	ENSP00000498079.1:p.Leu25IlefsTer11
ENST00000649823.1:n.340dup
ENST00000649868.1:c.34-430dup	ENSP00000497548.1:n.34-430dup
ENST00000650101.1:c.72dup	ENSP00000496970.1:p.Leu25IlefsTer11
ENST00000650307.1:n.575dup
ENST00000652429.1:c.123dup MANE Select	ENSP00000498786.1:p.Leu42IlefsTer11
ENST00000278715.7:c.123dup	ENSP00000278715.3:p.Leu42IlefsTer11
ENST00000392841.1:c.72dup	ENSP00000376584.1:p.Leu25IlefsTer11
ENST00000442944.6:c.72dup	ENSP00000392041.2:p.Leu25IlefsTer11
ENST00000534956.1:n.39dup
ENST00000535253.5:c.72dup	ENSP00000442079.1:p.Leu25IlefsTer11
ENST00000535793.5:c.69dup	ENSP00000439904.1:p.Leu24IlefsTer11
ENST00000536185.5:n.291dup
ENST00000536813.5:c.123dup	ENSP00000438726.1:p.Leu42IlefsTer11
ENST00000537841.5:c.72dup	ENSP00000444730.1:p.Leu25IlefsTer11
ENST00000539986.5:c.72dup	ENSP00000440092.1:p.Leu25IlefsTer11
ENST00000542044.5:n.194dup
ENST00000542345.5:n.261dup
ENST00000542729.5:c.72dup	ENSP00000443058.1:p.Leu25IlefsTer11
ENST00000542822.5:c.214dup	ENSP00000444817.1:p.Ile72AsnfsTer2
ENST00000543090.5:c.69dup	ENSP00000445429.1:p.Leu24IlefsTer11
ENST00000543543.5:n.358dup
ENST00000543821.5:n.269dup
ENST00000544360.5:n.91dup
ENST00000544387.5:c.123dup	ENSP00000438424.1:p.Leu42IlefsTer11
ENST00000545621.5:c.123dup	ENSP00000444849.1:p.Leu42IlefsTer11
ENST00000545901.5:n.276dup
ENST00000546226.5:n.182dup
ENST00000546302.5:c.123dup	ENSP00000445599.1:p.Leu42IlefsTer11
NM_000190.3:c.123dup	NP_000181.2:p.Leu42IlefsTer11
NM_001024382.1:c.72dup	NP_001019553.1:p.Leu25IlefsTer11
NM_001258208.1:c.123dup	NP_001245137.1:p.Leu42IlefsTer11
NM_001258209.1:c.72dup	NP_001245138.1:p.Leu25IlefsTer11
XM_005271531.1:c.72dup	XP_005271588.1:p.Leu25IlefsTer11
XM_005271532.1:c.72dup	XP_005271589.1:p.Leu25IlefsTer11
XM_005271533.2:c.69dup	XP_005271590.1:p.Leu24IlefsTer11
XM_011542796.1:c.-43dup	XP_011541098.1:n.-43dup
NM_000190.4:c.123dup MANE Select	NP_000181.2:p.Leu42IlefsTer11
NM_001024382.2:c.72dup	NP_001019553.1:p.Leu25IlefsTer11
XM_005271533.3:c.69dup	XP_005271590.1:p.Leu24IlefsTer11
XM_017017629.1:c.72dup	XP_016873118.1:p.Leu25IlefsTer11
XM_024448460.1:c.69dup	XP_024304228.1:p.Leu24IlefsTer11
NM_001258208.2:c.123dup	NP_001245137.1:p.Leu42IlefsTer11
NM_001258209.2:c.72dup	NP_001245138.1:p.Leu25IlefsTer11