Canonical Allele Identifier: CA2695215827
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092417_119092418insA , CM000673.2:g.119092417_119092418insA GRCh38
NC_000011.9:g.118963127_118963128insA , CM000673.1:g.118963127_118963128insA GRCh37
NC_000011.8:g.118468337_118468338insA NCBI36
NG_008093.1:g.12541_12542insA

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.500_501insA ENSP00000509288.1:p.Glu168GlyfsTer28
ENST00000691144.1:n.2646_2647insA
ENST00000691249.1:n.1489_1490insA
ENST00000442944.7:c.647_648insA ENSP00000392041.3:p.Glu217GlyfsTer28
ENST00000536813.6:c.614_615insA ENSP00000438726.2:p.Glu206GlyfsTer?
ENST00000640813.1:c.475_476insA ENSP00000491061.1:p.Trp159Ter
ENST00000648026.1:c.559_560insA ENSP00000498044.1:p.Trp187Ter
ENST00000648374.1:c.614_615insA ENSP00000497255.1:p.Glu206GlyfsTer28
ENST00000649823.1:n.1122_1123insA
ENST00000650101.1:c.596_597insA ENSP00000496970.1:p.Glu200GlyfsTer28
ENST00000650307.1:n.1491_1492insA
ENST00000652429.1:c.665_666insA MANE Select ENSP00000498786.1:p.Glu223GlyfsTer28
ENST00000278715.7:c.665_666insA ENSP00000278715.3:p.Glu223GlyfsTer28
ENST00000392841.1:c.614_615insA ENSP00000376584.1:p.Glu206GlyfsTer28
ENST00000442944.6:c.614_615insA ENSP00000392041.2:p.Glu206GlyfsTer28
ENST00000537841.5:c.614_615insA ENSP00000444730.1:p.Glu206GlyfsTer28
ENST00000542044.5:n.1110_1111insA
ENST00000542729.5:c.600+254_600+255insA ENSP00000443058.1:n.600+254_600+255insA
ENST00000543090.5:c.572_573insA ENSP00000445429.1:p.Glu192GlyfsTer28
ENST00000543543.5:n.1140_1141insA
ENST00000544182.1:n.880_881insA
ENST00000544387.5:c.651+254_651+255insA ENSP00000438424.1:n.651+254_651+255insA
ENST00000545621.5:c.*800_*801insA ENSP00000444849.1:n.*800_*801insA
ENST00000546226.5:n.1193_1194insA
NM_000190.3:c.665_666insA NP_000181.2:p.Glu223GlyfsTer28
NM_001024382.1:c.614_615insA NP_001019553.1:p.Glu206GlyfsTer28
NM_001258208.1:c.651+254_651+255insA NP_001245137.1:n.651+254_651+255insA
NM_001258209.1:c.600+254_600+255insA NP_001245138.1:n.600+254_600+255insA
XM_005271531.1:c.614_615insA XP_005271588.1:p.Glu206GlyfsTer28
XM_005271532.1:c.614_615insA XP_005271589.1:p.Glu206GlyfsTer28
XM_005271533.2:c.611_612insA XP_005271590.1:p.Glu205GlyfsTer28
XM_011542796.1:c.500_501insA XP_011541098.1:p.Glu168GlyfsTer28
NM_000190.4:c.665_666insA MANE Select NP_000181.2:p.Glu223GlyfsTer28
NM_001024382.2:c.614_615insA NP_001019553.1:p.Glu206GlyfsTer28
XM_005271533.3:c.611_612insA XP_005271590.1:p.Glu205GlyfsTer28
XM_017017629.1:c.614_615insA XP_016873118.1:p.Glu206GlyfsTer28
XM_024448460.1:c.597+254_597+255insA XP_024304228.1:n.597+254_597+255insA
NM_001258208.2:c.651+254_651+255insA NP_001245137.1:n.651+254_651+255insA
NM_001258209.2:c.600+254_600+255insA NP_001245138.1:n.600+254_600+255insA