Canonical Allele Identifier: CA2695215732

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092972_119092973insT , CM000673.2:g.119092972_119092973insT	GRCh38
NC_000011.9:g.118963682_118963683insT , CM000673.1:g.118963682_118963683insT	GRCh37
NC_000011.8:g.118468892_118468893insT	NCBI36
NG_008093.1:g.13096_13097insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.698_699insT	ENSP00000509288.1:p.Asp234ArgfsTer2
ENST00000691144.1:n.3078_3079insT
ENST00000691249.1:n.1687_1688insT
ENST00000442944.7:c.845_846insT	ENSP00000392041.3:p.Asp283ArgfsTer2
ENST00000640813.1:c.*100_*101insT	ENSP00000491061.1:n.*100_*101insT
ENST00000648026.1:c.757_758insT	ENSP00000498044.1:n.757_758insT
ENST00000648374.1:c.812_813insT	ENSP00000497255.1:p.Asp272ArgfsTer2
ENST00000650101.1:c.794_795insT	ENSP00000496970.1:p.Asp266ArgfsTer2
ENST00000650307.1:n.1689_1690insT
ENST00000652429.1:c.863_864insT MANE Select	ENSP00000498786.1:p.Asp289ArgfsTer2
ENST00000278715.7:c.863_864insT	ENSP00000278715.3:p.Asp289ArgfsTer2
ENST00000392841.1:c.812_813insT	ENSP00000376584.1:p.Asp272ArgfsTer2
ENST00000442944.6:c.812_813insT	ENSP00000392041.2:p.Asp272ArgfsTer2
ENST00000537841.5:c.812_813insT	ENSP00000444730.1:p.Asp272ArgfsTer2
ENST00000539045.1:n.362_363insT
ENST00000542044.5:n.1308_1309insT
ENST00000542729.5:c.692_693insT	ENSP00000443058.1:p.Asp232ArgfsTer2
ENST00000543090.5:c.770_771insT	ENSP00000445429.1:p.Asp258ArgfsTer2
ENST00000543543.5:n.1338_1339insT
ENST00000544182.1:n.1312_1313insT
ENST00000544387.5:c.743_744insT	ENSP00000438424.1:p.Asp249ArgfsTer2
ENST00000546226.5:n.1625_1626insT
NM_000190.3:c.863_864insT	NP_000181.2:p.Asp289ArgfsTer2
NM_001024382.1:c.812_813insT	NP_001019553.1:p.Asp272ArgfsTer2
NM_001258208.1:c.743_744insT	NP_001245137.1:p.Asp249ArgfsTer2
NM_001258209.1:c.692_693insT	NP_001245138.1:p.Asp232ArgfsTer2
XM_005271531.1:c.812_813insT	XP_005271588.1:p.Asp272ArgfsTer2
XM_005271532.1:c.812_813insT	XP_005271589.1:p.Asp272ArgfsTer2
XM_005271533.2:c.809_810insT	XP_005271590.1:p.Asp271ArgfsTer2
XM_011542796.1:c.698_699insT	XP_011541098.1:p.Asp234ArgfsTer2
NM_000190.4:c.863_864insT MANE Select	NP_000181.2:p.Asp289ArgfsTer2
NM_001024382.2:c.812_813insT	NP_001019553.1:p.Asp272ArgfsTer2
XM_005271533.3:c.809_810insT	XP_005271590.1:p.Asp271ArgfsTer2
XM_017017629.1:c.812_813insT	XP_016873118.1:p.Asp272ArgfsTer2
XM_024448460.1:c.689_690insT	XP_024304228.1:p.Asp231ArgfsTer2
NM_001258208.2:c.743_744insT	NP_001245137.1:p.Asp249ArgfsTer2
NM_001258209.2:c.692_693insT	NP_001245138.1:p.Asp232ArgfsTer2