Canonical Allele Identifier: CA2003793184

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093105_119093107delinsTAC , CM000673.2:g.119093105_119093107delinsTAC	GRCh38
NC_000011.9:g.118963815_118963817delinsTAC , CM000673.1:g.118963815_118963817delinsTAC	GRCh37
NC_000011.8:g.118469025_118469027delinsTAC	NCBI36
NG_008093.1:g.13229_13231delinsTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.748-5_748-3delinsTAC	ENSP00000509288.1:n.748-5_748-3delinsTAC
ENST00000691144.1:n.3128-5_3128-3delinsTAC
ENST00000691249.1:n.1737-5_1737-3delinsTAC
ENST00000442944.7:c.895-5_895-3delinsTAC	ENSP00000392041.3:n.895-5_895-3delinsTAC
ENST00000640813.1:c.*150-5_*150-3delinsTAC	ENSP00000491061.1:n.*150-5_*150-3delinsTAC
ENST00000648026.1:c.807-5_807-3delinsTAC	ENSP00000498044.1:n.807-5_807-3delinsTAC
ENST00000648374.1:c.862-5_862-3delinsTAC	ENSP00000497255.1:n.862-5_862-3delinsTAC
ENST00000650101.1:c.844-5_844-3delinsTAC	ENSP00000496970.1:n.844-5_844-3delinsTAC
ENST00000650307.1:n.1739-5_1739-3delinsTAC
ENST00000652429.1:c.913-5_913-3delinsTAC MANE Select	ENSP00000498786.1:n.913-5_913-3delinsTAC
ENST00000278715.7:c.913-5_913-3delinsTAC	ENSP00000278715.3:n.913-5_913-3delinsTAC
ENST00000392841.1:c.862-5_862-3delinsTAC	ENSP00000376584.1:n.862-5_862-3delinsTAC
ENST00000442944.6:c.862-5_862-3delinsTAC	ENSP00000392041.2:n.862-5_862-3delinsTAC
ENST00000537841.5:c.862-5_862-3delinsTAC	ENSP00000444730.1:n.862-5_862-3delinsTAC
ENST00000539045.1:n.412-5_412-3delinsTAC
ENST00000542044.5:n.1358-5_1358-3delinsTAC
ENST00000542729.5:c.742-5_742-3delinsTAC	ENSP00000443058.1:n.742-5_742-3delinsTAC
ENST00000543090.5:c.820-5_820-3delinsTAC	ENSP00000445429.1:n.820-5_820-3delinsTAC
ENST00000543543.5:n.1388-5_1388-3delinsTAC
ENST00000544182.1:n.1362-5_1362-3delinsTAC
ENST00000544387.5:c.793-5_793-3delinsTAC	ENSP00000438424.1:n.793-5_793-3delinsTAC
ENST00000546226.5:n.1675-5_1675-3delinsTAC
NM_000190.3:c.913-5_913-3delinsTAC	NP_000181.2:n.913-5_913-3delinsTAC
NM_001024382.1:c.862-5_862-3delinsTAC	NP_001019553.1:n.862-5_862-3delinsTAC
NM_001258208.1:c.793-5_793-3delinsTAC	NP_001245137.1:n.793-5_793-3delinsTAC
NM_001258209.1:c.742-5_742-3delinsTAC	NP_001245138.1:n.742-5_742-3delinsTAC
XM_005271531.1:c.862-5_862-3delinsTAC	XP_005271588.1:n.862-5_862-3delinsTAC
XM_005271532.1:c.862-5_862-3delinsTAC	XP_005271589.1:n.862-5_862-3delinsTAC
XM_005271533.2:c.859-5_859-3delinsTAC	XP_005271590.1:n.859-5_859-3delinsTAC
XM_011542796.1:c.748-5_748-3delinsTAC	XP_011541098.1:n.748-5_748-3delinsTAC
NM_000190.4:c.913-5_913-3delinsTAC MANE Select	NP_000181.2:n.913-5_913-3delinsTAC
NM_001024382.2:c.862-5_862-3delinsTAC	NP_001019553.1:n.862-5_862-3delinsTAC
XM_005271533.3:c.859-5_859-3delinsTAC	XP_005271590.1:n.859-5_859-3delinsTAC
XM_017017629.1:c.862-5_862-3delinsTAC	XP_016873118.1:n.862-5_862-3delinsTAC
XM_024448460.1:c.739-5_739-3delinsTAC	XP_024304228.1:n.739-5_739-3delinsTAC
NM_001258208.2:c.793-5_793-3delinsTAC	NP_001245137.1:n.793-5_793-3delinsTAC
NM_001258209.2:c.742-5_742-3delinsTAC	NP_001245138.1:n.742-5_742-3delinsTAC