Canonical Allele Identifier: CA2616355326

Gene: HMBS

Linked Data

• gnomAD v4: 11-119089721-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089724_119089725del , CM000673.2:g.119089724_119089725del	GRCh38
NC_000011.9:g.118960434_118960435del , CM000673.1:g.118960434_118960435del	GRCh37
NC_000011.8:g.118465644_118465645del	NCBI36
NG_008093.1:g.9848_9849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.143_144del	ENSP00000509288.1:p.Val48AlafsTer18
ENST00000686690.1:n.929_930del
ENST00000691144.1:n.2049_2050del
ENST00000691249.1:n.892_893del
ENST00000442944.7:c.290_291del	ENSP00000392041.3:p.Val97AlafsTer18
ENST00000534956.2:n.257_258del
ENST00000536813.6:c.257_258del	ENSP00000438726.2:p.Val86AlafsTer18
ENST00000546302.6:c.267-266_267-265del	ENSP00000445599.1:n.267-266_267-265del
ENST00000640813.1:c.257_258del	ENSP00000491061.1:p.Val86AlafsTer18
ENST00000648026.1:c.302_303del	ENSP00000498044.1:p.Val101AlafsTer18
ENST00000648374.1:c.257_258del	ENSP00000497255.1:p.Val86AlafsTer18
ENST00000648488.1:c.257_258del	ENSP00000498079.1:p.Val86AlafsTer18
ENST00000649823.1:n.525_526del
ENST00000649868.1:c.*16_*17del	ENSP00000497548.1:n.*16_*17del
ENST00000650101.1:c.239_240del	ENSP00000496970.1:p.Val80AlafsTer18
ENST00000650307.1:n.1134_1135del
ENST00000652429.1:c.308_309del MANE Select	ENSP00000498786.1:p.Val103AlafsTer18
ENST00000278715.7:c.308_309del	ENSP00000278715.3:p.Val103AlafsTer18
ENST00000392841.1:c.257_258del	ENSP00000376584.1:p.Val86AlafsTer18
ENST00000442944.6:c.257_258del	ENSP00000392041.2:p.Val86AlafsTer18
ENST00000534956.1:n.224_225del
ENST00000535253.5:c.257_258del	ENSP00000442079.1:p.Val86AlafsTer18
ENST00000535793.5:c.*203_*204del	ENSP00000439904.1:n.*203_*204del
ENST00000536185.5:n.426_427del
ENST00000536813.5:c.290_291del	ENSP00000438726.1:p.Val97AlafsTer18
ENST00000537841.5:c.257_258del	ENSP00000444730.1:p.Val86AlafsTer18
ENST00000539986.5:c.257_258del	ENSP00000440092.1:p.Val86AlafsTer18
ENST00000542044.5:n.753_754del
ENST00000542345.5:n.446_447del
ENST00000542729.5:c.257_258del	ENSP00000443058.1:p.Val86AlafsTer18
ENST00000542822.5:c.*244_*245del	ENSP00000444817.1:n.*244_*245del
ENST00000543090.5:c.254_255del	ENSP00000445429.1:p.Val85AlafsTer18
ENST00000543543.5:n.543_544del
ENST00000543821.5:n.454_455del
ENST00000544360.5:n.276_277del
ENST00000544387.5:c.308_309del	ENSP00000438424.1:p.Val103AlafsTer18
ENST00000545621.5:c.*203_*204del	ENSP00000444849.1:n.*203_*204del
ENST00000546226.5:n.367_368del
ENST00000546302.5:c.267-266_267-265del	ENSP00000445599.1:n.267-266_267-265del
NM_000190.3:c.308_309del	NP_000181.2:p.Val103AlafsTer18
NM_001024382.1:c.257_258del	NP_001019553.1:p.Val86AlafsTer18
NM_001258208.1:c.308_309del	NP_001245137.1:p.Val103AlafsTer18
NM_001258209.1:c.257_258del	NP_001245138.1:p.Val86AlafsTer18
XM_005271531.1:c.257_258del	XP_005271588.1:p.Val86AlafsTer18
XM_005271532.1:c.257_258del	XP_005271589.1:p.Val86AlafsTer18
XM_005271533.2:c.254_255del	XP_005271590.1:p.Val85AlafsTer18
XM_011542796.1:c.143_144del	XP_011541098.1:p.Val48AlafsTer18
NM_000190.4:c.308_309del MANE Select	NP_000181.2:p.Val103AlafsTer18
NM_001024382.2:c.257_258del	NP_001019553.1:p.Val86AlafsTer18
XM_005271533.3:c.254_255del	XP_005271590.1:p.Val85AlafsTer18
XM_017017629.1:c.257_258del	XP_016873118.1:p.Val86AlafsTer18
XM_024448460.1:c.254_255del	XP_024304228.1:p.Val85AlafsTer18
NM_001258208.2:c.308_309del	NP_001245137.1:p.Val103AlafsTer18
NM_001258209.2:c.257_258del	NP_001245138.1:p.Val86AlafsTer18