Canonical Allele Identifier: CA2695215760

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093177_119093183del , CM000673.2:g.119093177_119093183del	GRCh38
NC_000011.9:g.118963887_118963893del , CM000673.1:g.118963887_118963893del	GRCh37
NC_000011.8:g.118469097_118469103del	NCBI36
NG_008093.1:g.13301_13307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.815_821del	ENSP00000509288.1:p.Pro272ArgfsTer15
ENST00000691144.1:n.3195_3201del
ENST00000691249.1:n.1804_1810del
ENST00000442944.7:c.962_968del	ENSP00000392041.3:p.Pro321ArgfsTer15
ENST00000640813.1:c.*217_*223del	ENSP00000491061.1:n.*217_*223del
ENST00000648026.1:c.874_880del	ENSP00000498044.1:n.874_880del
ENST00000648374.1:c.929_935del	ENSP00000497255.1:p.Pro310ArgfsTer15
ENST00000650101.1:c.911_917del	ENSP00000496970.1:p.Pro304ArgfsTer15
ENST00000650307.1:n.1806_1812del
ENST00000652429.1:c.980_986del MANE Select	ENSP00000498786.1:p.Pro327ArgfsTer15
ENST00000278715.7:c.980_986del	ENSP00000278715.3:p.Pro327ArgfsTer15
ENST00000392841.1:c.929_935del	ENSP00000376584.1:p.Pro310ArgfsTer15
ENST00000442944.6:c.929_935del	ENSP00000392041.2:p.Pro310ArgfsTer15
ENST00000537841.5:c.929_935del	ENSP00000444730.1:p.Pro310ArgfsTer15
ENST00000539045.1:n.479_485del
ENST00000542044.5:n.1425_1431del
ENST00000542729.5:c.809_815del	ENSP00000443058.1:p.Pro270ArgfsTer15
ENST00000543090.5:c.887_893del	ENSP00000445429.1:p.Pro296ArgfsTer15
ENST00000543543.5:n.1455_1461del
ENST00000544182.1:n.1429_1435del
ENST00000544387.5:c.860_866del	ENSP00000438424.1:p.Pro287ArgfsTer15
ENST00000546226.5:n.1742_1748del
NM_000190.3:c.980_986del	NP_000181.2:p.Pro327ArgfsTer15
NM_001024382.1:c.929_935del	NP_001019553.1:p.Pro310ArgfsTer15
NM_001258208.1:c.860_866del	NP_001245137.1:p.Pro287ArgfsTer15
NM_001258209.1:c.809_815del	NP_001245138.1:p.Pro270ArgfsTer15
XM_005271531.1:c.929_935del	XP_005271588.1:p.Pro310ArgfsTer15
XM_005271532.1:c.929_935del	XP_005271589.1:p.Pro310ArgfsTer15
XM_005271533.2:c.926_932del	XP_005271590.1:p.Pro309ArgfsTer15
XM_011542796.1:c.815_821del	XP_011541098.1:p.Pro272ArgfsTer15
NM_000190.4:c.980_986del MANE Select	NP_000181.2:p.Pro327ArgfsTer15
NM_001024382.2:c.929_935del	NP_001019553.1:p.Pro310ArgfsTer15
XM_005271533.3:c.926_932del	XP_005271590.1:p.Pro309ArgfsTer15
XM_017017629.1:c.929_935del	XP_016873118.1:p.Pro310ArgfsTer15
XM_024448460.1:c.806_812del	XP_024304228.1:p.Pro269ArgfsTer15
NM_001258208.2:c.860_866del	NP_001245137.1:p.Pro287ArgfsTer15
NM_001258209.2:c.809_815del	NP_001245138.1:p.Pro270ArgfsTer15