Canonical Allele Identifier: CA2003793301

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093154_119093155delinsTG , CM000673.2:g.119093154_119093155delinsTG	GRCh38
NC_000011.9:g.118963864_118963865delinsTG , CM000673.1:g.118963864_118963865delinsTG	GRCh37
NC_000011.8:g.118469074_118469075delinsTG	NCBI36
NG_008093.1:g.13278_13279delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.792_793delinsTG	ENSP00000509288.1:p.Thr264=
ENST00000691144.1:n.3172_3173delinsTG
ENST00000691249.1:n.1781_1782delinsTG
ENST00000442944.7:c.939_940delinsTG	ENSP00000392041.3:p.Thr313=
ENST00000640813.1:c.*194_*195delinsTG	ENSP00000491061.1:n.*194_*195delinsTG
ENST00000648026.1:c.851_852delinsTG	ENSP00000498044.1:n.851_852delinsTG
ENST00000648374.1:c.906_907delinsTG	ENSP00000497255.1:p.Thr302=
ENST00000650101.1:c.888_889delinsTG	ENSP00000496970.1:p.Thr296=
ENST00000650307.1:n.1783_1784delinsTG
ENST00000652429.1:c.957_958delinsTG MANE Select	ENSP00000498786.1:p.Thr319=
ENST00000278715.7:c.957_958delinsTG	ENSP00000278715.3:p.Thr319=
ENST00000392841.1:c.906_907delinsTG	ENSP00000376584.1:p.Thr302=
ENST00000442944.6:c.906_907delinsTG	ENSP00000392041.2:p.Thr302=
ENST00000537841.5:c.906_907delinsTG	ENSP00000444730.1:p.Thr302=
ENST00000539045.1:n.456_457delinsTG
ENST00000542044.5:n.1402_1403delinsTG
ENST00000542729.5:c.786_787delinsTG	ENSP00000443058.1:p.Thr262=
ENST00000543090.5:c.864_865delinsTG	ENSP00000445429.1:p.Thr288=
ENST00000543543.5:n.1432_1433delinsTG
ENST00000544182.1:n.1406_1407delinsTG
ENST00000544387.5:c.837_838delinsTG	ENSP00000438424.1:p.Thr279=
ENST00000546226.5:n.1719_1720delinsTG
NM_000190.3:c.957_958delinsTG	NP_000181.2:p.Thr319=
NM_001024382.1:c.906_907delinsTG	NP_001019553.1:p.Thr302=
NM_001258208.1:c.837_838delinsTG	NP_001245137.1:p.Thr279=
NM_001258209.1:c.786_787delinsTG	NP_001245138.1:p.Thr262=
XM_005271531.1:c.906_907delinsTG	XP_005271588.1:p.Thr302=
XM_005271532.1:c.906_907delinsTG	XP_005271589.1:p.Thr302=
XM_005271533.2:c.903_904delinsTG	XP_005271590.1:p.Thr301=
XM_011542796.1:c.792_793delinsTG	XP_011541098.1:p.Thr264=
NM_000190.4:c.957_958delinsTG MANE Select	NP_000181.2:p.Thr319=
NM_001024382.2:c.906_907delinsTG	NP_001019553.1:p.Thr302=
XM_005271533.3:c.903_904delinsTG	XP_005271590.1:p.Thr301=
XM_017017629.1:c.906_907delinsTG	XP_016873118.1:p.Thr302=
XM_024448460.1:c.783_784delinsTG	XP_024304228.1:p.Thr261=
NM_001258208.2:c.837_838delinsTG	NP_001245137.1:p.Thr279=
NM_001258209.2:c.786_787delinsTG	NP_001245138.1:p.Thr262=