Canonical Allele Identifier: CA2003793710

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093333_119093334delinsTC , CM000673.2:g.119093333_119093334delinsTC	GRCh38
NC_000011.9:g.118964043_118964044delinsTC , CM000673.1:g.118964043_118964044delinsTC	GRCh37
NC_000011.8:g.118469253_118469254delinsTC	NCBI36
NG_008093.1:g.13457_13458delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*50_*51delinsTC	ENSP00000509288.1:n.*50_*51delinsTC
ENST00000691144.1:n.3351_3352delinsTC
ENST00000691249.1:n.1960_1961delinsTC
ENST00000442944.7:c.*50_*51delinsTC	ENSP00000392041.3:n.*50_*51delinsTC
ENST00000640813.1:c.*373_*374delinsTC	ENSP00000491061.1:n.*373_*374delinsTC
ENST00000648026.1:c.1030_1031delinsTC	ENSP00000498044.1:n.1030_1031delinsTC
ENST00000648374.1:c.*50_*51delinsTC	ENSP00000497255.1:n.*50_*51delinsTC
ENST00000650101.1:c.*50_*51delinsTC	ENSP00000496970.1:n.*50_*51delinsTC
ENST00000650307.1:n.1962_1963delinsTC
ENST00000652429.1:c.*50_*51delinsTC MANE Select	ENSP00000498786.1:n.*50_*51delinsTC
ENST00000278715.7:c.*50_*51delinsTC	ENSP00000278715.3:n.*50_*51delinsTC
ENST00000392841.1:c.*50_*51delinsTC	ENSP00000376584.1:n.*50_*51delinsTC
ENST00000442944.6:c.*50_*51delinsTC	ENSP00000392041.2:n.*50_*51delinsTC
ENST00000537841.5:c.*50_*51delinsTC	ENSP00000444730.1:n.*50_*51delinsTC
ENST00000539045.1:n.635_636delinsTC
ENST00000542729.5:c.*50_*51delinsTC	ENSP00000443058.1:n.*50_*51delinsTC
ENST00000543090.5:c.*50_*51delinsTC	ENSP00000445429.1:n.*50_*51delinsTC
ENST00000543543.5:n.1611_1612delinsTC
ENST00000544387.5:c.*50_*51delinsTC	ENSP00000438424.1:n.*50_*51delinsTC
ENST00000546226.5:n.1898_1899delinsTC
NM_000190.3:c.*50_*51delinsTC	NP_000181.2:n.*50_*51delinsTC
NM_001024382.1:c.*50_*51delinsTC	NP_001019553.1:n.*50_*51delinsTC
NM_001258208.1:c.*50_*51delinsTC	NP_001245137.1:n.*50_*51delinsTC
NM_001258209.1:c.*50_*51delinsTC	NP_001245138.1:n.*50_*51delinsTC
XM_005271531.1:c.*50_*51delinsTC	XP_005271588.1:n.*50_*51delinsTC
XM_005271532.1:c.*50_*51delinsTC	XP_005271589.1:n.*50_*51delinsTC
XM_005271533.2:c.*50_*51delinsTC	XP_005271590.1:n.*50_*51delinsTC
XM_011542796.1:c.*50_*51delinsTC	XP_011541098.1:n.*50_*51delinsTC
NM_000190.4:c.*50_*51delinsTC MANE Select	NP_000181.2:n.*50_*51delinsTC
NM_001024382.2:c.*50_*51delinsTC	NP_001019553.1:n.*50_*51delinsTC
XM_005271533.3:c.*50_*51delinsTC	XP_005271590.1:n.*50_*51delinsTC
XM_017017629.1:c.*50_*51delinsTC	XP_016873118.1:n.*50_*51delinsTC
XM_024448460.1:c.*50_*51delinsTC	XP_024304228.1:n.*50_*51delinsTC
NM_001258208.2:c.*50_*51delinsTC	NP_001245137.1:n.*50_*51delinsTC
NM_001258209.2:c.*50_*51delinsTC	NP_001245138.1:n.*50_*51delinsTC