Canonical Allele Identifier: CA2003790194

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091726_119091727delinsTA , CM000673.2:g.119091726_119091727delinsTA	GRCh38
NC_000011.9:g.118962436_118962437delinsTA , CM000673.1:g.118962436_118962437delinsTA	GRCh37
NC_000011.8:g.118467646_118467647delinsTA	NCBI36
NG_008093.1:g.11850_11851delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.447+200_447+201delinsTA	ENSP00000509288.1:n.447+200_447+201delinsTA
ENST00000686690.1:n.1662_1663delinsTA
ENST00000691144.1:n.2353+200_2353+201delinsTA
ENST00000691249.1:n.1196+200_1196+201delinsTA
ENST00000442944.7:c.594+200_594+201delinsTA	ENSP00000392041.3:n.594+200_594+201delinsTA
ENST00000534956.2:n.448-135_448-134delinsTA
ENST00000536813.6:c.561+200_561+201delinsTA	ENSP00000438726.2:n.561+200_561+201delinsTA
ENST00000546302.6:c.534+200_534+201delinsTA	ENSP00000445599.1:n.534+200_534+201delinsTA
ENST00000640813.1:c.448-135_448-134delinsTA	ENSP00000491061.1:n.448-135_448-134delinsTA
ENST00000648026.1:c.493-135_493-134delinsTA	ENSP00000498044.1:n.493-135_493-134delinsTA
ENST00000648374.1:c.561+200_561+201delinsTA	ENSP00000497255.1:n.561+200_561+201delinsTA
ENST00000648488.1:c.*86-399_*86-398delinsTA	ENSP00000498079.1:n.*86-399_*86-398delinsTA
ENST00000649823.1:n.829+200_829+201delinsTA
ENST00000649868.1:c.*207-135_*207-134delinsTA	ENSP00000497548.1:n.*207-135_*207-134delinsTA
ENST00000650101.1:c.543+200_543+201delinsTA	ENSP00000496970.1:n.543+200_543+201delinsTA
ENST00000650307.1:n.1438+200_1438+201delinsTA
ENST00000652429.1:c.612+200_612+201delinsTA MANE Select	ENSP00000498786.1:n.612+200_612+201delinsTA
ENST00000278715.7:c.612+200_612+201delinsTA	ENSP00000278715.3:n.612+200_612+201delinsTA
ENST00000392841.1:c.561+200_561+201delinsTA	ENSP00000376584.1:n.561+200_561+201delinsTA
ENST00000442944.6:c.561+200_561+201delinsTA	ENSP00000392041.2:n.561+200_561+201delinsTA
ENST00000534956.1:n.415-135_415-134delinsTA
ENST00000537841.5:c.561+200_561+201delinsTA	ENSP00000444730.1:n.561+200_561+201delinsTA
ENST00000542044.5:n.1057+200_1057+201delinsTA
ENST00000542345.5:n.750+200_750+201delinsTA
ENST00000542729.5:c.561+200_561+201delinsTA	ENSP00000443058.1:n.561+200_561+201delinsTA
ENST00000543090.5:c.558+200_558+201delinsTA	ENSP00000445429.1:n.558+200_558+201delinsTA
ENST00000543543.5:n.847+200_847+201delinsTA
ENST00000544182.1:n.189_190delinsTA
ENST00000544387.5:c.612+200_612+201delinsTA	ENSP00000438424.1:n.612+200_612+201delinsTA
ENST00000545621.5:c.*507+200_*507+201delinsTA	ENSP00000444849.1:n.*507+200_*507+201delinsTA
ENST00000546226.5:n.900+200_900+201delinsTA
ENST00000546302.5:c.534+200_534+201delinsTA	ENSP00000445599.1:n.534+200_534+201delinsTA
NM_000190.3:c.612+200_612+201delinsTA	NP_000181.2:n.612+200_612+201delinsTA
NM_001024382.1:c.561+200_561+201delinsTA	NP_001019553.1:n.561+200_561+201delinsTA
NM_001258208.1:c.612+200_612+201delinsTA	NP_001245137.1:n.612+200_612+201delinsTA
NM_001258209.1:c.561+200_561+201delinsTA	NP_001245138.1:n.561+200_561+201delinsTA
XM_005271531.1:c.561+200_561+201delinsTA	XP_005271588.1:n.561+200_561+201delinsTA
XM_005271532.1:c.561+200_561+201delinsTA	XP_005271589.1:n.561+200_561+201delinsTA
XM_005271533.2:c.558+200_558+201delinsTA	XP_005271590.1:n.558+200_558+201delinsTA
XM_011542796.1:c.447+200_447+201delinsTA	XP_011541098.1:n.447+200_447+201delinsTA
NM_000190.4:c.612+200_612+201delinsTA MANE Select	NP_000181.2:n.612+200_612+201delinsTA
NM_001024382.2:c.561+200_561+201delinsTA	NP_001019553.1:n.561+200_561+201delinsTA
XM_005271533.3:c.558+200_558+201delinsTA	XP_005271590.1:n.558+200_558+201delinsTA
XM_017017629.1:c.561+200_561+201delinsTA	XP_016873118.1:n.561+200_561+201delinsTA
XM_024448460.1:c.558+200_558+201delinsTA	XP_024304228.1:n.558+200_558+201delinsTA
NM_001258208.2:c.612+200_612+201delinsTA	NP_001245137.1:n.612+200_612+201delinsTA
NM_001258209.2:c.561+200_561+201delinsTA	NP_001245138.1:n.561+200_561+201delinsTA