Canonical Allele Identifier: CA2616354654

Gene: HMBS

Linked Data

• gnomAD v4: 11-119088637-TGCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119088640_119088643del , CM000673.2:g.119088640_119088643del	GRCh38
NC_000011.9:g.118959350_118959353del , CM000673.1:g.118959350_118959353del	GRCh37
NC_000011.8:g.118464560_118464563del	NCBI36
NG_008093.1:g.8764_8767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-73_-70del	ENSP00000509288.1:n.-73_-70del
ENST00000686690.1:n.255_258del
ENST00000691144.1:n.1375_1378del
ENST00000691249.1:n.677_680del
ENST00000442944.7:c.93_96del	ENSP00000392041.3:p.Arg32TyrfsTer10
ENST00000534956.2:n.42_45del
ENST00000536813.6:c.42_45del	ENSP00000438726.2:p.Arg15TyrfsTer10
ENST00000546302.6:c.93_96del	ENSP00000445599.1:p.Arg32TyrfsTer10
ENST00000640813.1:c.42_45del	ENSP00000491061.1:p.Arg15TyrfsTer10
ENST00000648026.1:c.87_90del	ENSP00000498044.1:p.Arg30TyrfsTer10
ENST00000648374.1:c.42_45del	ENSP00000497255.1:p.Arg15TyrfsTer10
ENST00000648488.1:c.42_45del	ENSP00000498079.1:p.Arg15TyrfsTer10
ENST00000649823.1:n.310_313del
ENST00000649868.1:c.34-460_34-457del	ENSP00000497548.1:n.34-460_34-457del
ENST00000650101.1:c.42_45del	ENSP00000496970.1:p.Arg15TyrfsTer10
ENST00000650307.1:n.545_548del
ENST00000652429.1:c.93_96del MANE Select	ENSP00000498786.1:p.Arg32TyrfsTer10
ENST00000278715.7:c.93_96del	ENSP00000278715.3:p.Arg32TyrfsTer10
ENST00000392841.1:c.42_45del	ENSP00000376584.1:p.Arg15TyrfsTer10
ENST00000442944.6:c.42_45del	ENSP00000392041.2:p.Arg15TyrfsTer10
ENST00000534956.1:n.9_12del
ENST00000535253.5:c.42_45del	ENSP00000442079.1:p.Arg15TyrfsTer10
ENST00000535793.5:c.39_42del	ENSP00000439904.1:p.Arg14TyrfsTer10
ENST00000536185.5:n.261_264del
ENST00000536813.5:c.93_96del	ENSP00000438726.1:p.Arg32TyrfsTer10
ENST00000537841.5:c.42_45del	ENSP00000444730.1:p.Arg15TyrfsTer10
ENST00000539986.5:c.42_45del	ENSP00000440092.1:p.Arg15TyrfsTer10
ENST00000542044.5:n.164_167del
ENST00000542345.5:n.231_234del
ENST00000542729.5:c.42_45del	ENSP00000443058.1:p.Arg15TyrfsTer10
ENST00000542822.5:c.184_187del	ENSP00000444817.1:p.Ser62IlefsTer?
ENST00000543090.5:c.39_42del	ENSP00000445429.1:p.Arg14TyrfsTer10
ENST00000543543.5:n.328_331del
ENST00000543821.5:n.239_242del
ENST00000544360.5:n.61_64del
ENST00000544387.5:c.93_96del	ENSP00000438424.1:p.Arg32TyrfsTer10
ENST00000545621.5:c.93_96del	ENSP00000444849.1:p.Arg32TyrfsTer10
ENST00000545901.5:n.246_249del
ENST00000546226.5:n.152_155del
ENST00000546302.5:c.93_96del	ENSP00000445599.1:p.Arg32TyrfsTer10
NM_000190.3:c.93_96del	NP_000181.2:p.Arg32TyrfsTer10
NM_001024382.1:c.42_45del	NP_001019553.1:p.Arg15TyrfsTer10
NM_001258208.1:c.93_96del	NP_001245137.1:p.Arg32TyrfsTer10
NM_001258209.1:c.42_45del	NP_001245138.1:p.Arg15TyrfsTer10
XM_005271531.1:c.42_45del	XP_005271588.1:p.Arg15TyrfsTer10
XM_005271532.1:c.42_45del	XP_005271589.1:p.Arg15TyrfsTer10
XM_005271533.2:c.39_42del	XP_005271590.1:p.Arg14TyrfsTer10
XM_011542796.1:c.-73_-70del	XP_011541098.1:n.-73_-70del
NM_000190.4:c.93_96del MANE Select	NP_000181.2:p.Arg32TyrfsTer10
NM_001024382.2:c.42_45del	NP_001019553.1:p.Arg15TyrfsTer10
XM_005271533.3:c.39_42del	XP_005271590.1:p.Arg14TyrfsTer10
XM_017017629.1:c.42_45del	XP_016873118.1:p.Arg15TyrfsTer10
XM_024448460.1:c.39_42del	XP_024304228.1:p.Arg14TyrfsTer10
NM_001258208.2:c.93_96del	NP_001245137.1:p.Arg32TyrfsTer10
NM_001258209.2:c.42_45del	NP_001245138.1:p.Arg15TyrfsTer10