Canonical Allele Identifier: CA2695215804

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091496_119091500del , CM000673.2:g.119091496_119091500del	GRCh38
NC_000011.9:g.118962206_118962210del , CM000673.1:g.118962206_118962210del	GRCh37
NC_000011.8:g.118467416_118467420del	NCBI36
NG_008093.1:g.11620_11624del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.417_421del	ENSP00000509288.1:p.Gln139HisfsTer14
ENST00000686690.1:n.1432_1436del
ENST00000691144.1:n.2323_2327del
ENST00000691249.1:n.1166_1170del
ENST00000442944.7:c.564_568del	ENSP00000392041.3:p.Gln188HisfsTer14
ENST00000534956.2:n.448-365_448-361del
ENST00000536813.6:c.531_535del	ENSP00000438726.2:p.Gln177HisfsTer14
ENST00000546302.6:c.504_508del	ENSP00000445599.1:p.Gln168HisfsTer14
ENST00000640813.1:c.448-365_448-361del	ENSP00000491061.1:n.448-365_448-361del
ENST00000648026.1:c.493-365_493-361del	ENSP00000498044.1:n.493-365_493-361del
ENST00000648374.1:c.531_535del	ENSP00000497255.1:p.Gln177HisfsTer14
ENST00000648488.1:c.*85+240_*85+244del	ENSP00000498079.1:n.*85+240_*85+244del
ENST00000649823.1:n.799_803del
ENST00000649868.1:c.*207-365_*207-361del	ENSP00000497548.1:n.*207-365_*207-361del
ENST00000650101.1:c.513_517del	ENSP00000496970.1:p.Gln171HisfsTer14
ENST00000650307.1:n.1408_1412del
ENST00000652429.1:c.582_586del MANE Select	ENSP00000498786.1:p.Gln194HisfsTer14
ENST00000278715.7:c.582_586del	ENSP00000278715.3:p.Gln194HisfsTer14
ENST00000392841.1:c.531_535del	ENSP00000376584.1:p.Gln177HisfsTer14
ENST00000442944.6:c.531_535del	ENSP00000392041.2:p.Gln177HisfsTer14
ENST00000534956.1:n.415-365_415-361del
ENST00000535253.5:c.531_535del	ENSP00000442079.1:p.Gln177HisfsTer?
ENST00000535793.5:c.*477_*481del	ENSP00000439904.1:n.*477_*481del
ENST00000537841.5:c.531_535del	ENSP00000444730.1:p.Gln177HisfsTer14
ENST00000539986.5:c.531_535del	ENSP00000440092.1:p.Gln177HisfsTer?
ENST00000542044.5:n.1027_1031del
ENST00000542345.5:n.720_724del
ENST00000542729.5:c.531_535del	ENSP00000443058.1:p.Gln177HisfsTer14
ENST00000542822.5:c.*518_*522del	ENSP00000444817.1:n.*518_*522del
ENST00000543090.5:c.528_532del	ENSP00000445429.1:p.Gln176HisfsTer?
ENST00000543543.5:n.817_821del
ENST00000544360.5:n.550_554del
ENST00000544387.5:c.582_586del	ENSP00000438424.1:p.Gln194HisfsTer14
ENST00000545621.5:c.*477_*481del	ENSP00000444849.1:n.*477_*481del
ENST00000546226.5:n.870_874del
ENST00000546302.5:c.504_508del	ENSP00000445599.1:p.Gln168HisfsTer14
NM_000190.3:c.582_586del	NP_000181.2:p.Gln194HisfsTer14
NM_001024382.1:c.531_535del	NP_001019553.1:p.Gln177HisfsTer14
NM_001258208.1:c.582_586del	NP_001245137.1:p.Gln194HisfsTer14
NM_001258209.1:c.531_535del	NP_001245138.1:p.Gln177HisfsTer14
XM_005271531.1:c.531_535del	XP_005271588.1:p.Gln177HisfsTer14
XM_005271532.1:c.531_535del	XP_005271589.1:p.Gln177HisfsTer14
XM_005271533.2:c.528_532del	XP_005271590.1:p.Gln176HisfsTer14
XM_011542796.1:c.417_421del	XP_011541098.1:p.Gln139HisfsTer14
NM_000190.4:c.582_586del MANE Select	NP_000181.2:p.Gln194HisfsTer14
NM_001024382.2:c.531_535del	NP_001019553.1:p.Gln177HisfsTer14
XM_005271533.3:c.528_532del	XP_005271590.1:p.Gln176HisfsTer14
XM_017017629.1:c.531_535del	XP_016873118.1:p.Gln177HisfsTer14
XM_024448460.1:c.528_532del	XP_024304228.1:p.Gln176HisfsTer14
NM_001258208.2:c.582_586del	NP_001245137.1:p.Gln194HisfsTer14
NM_001258209.2:c.531_535del	NP_001245138.1:p.Gln177HisfsTer14