Canonical Allele Identifier: CA2573105802

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092951_119092953del , CM000673.2:g.119092951_119092953del	GRCh38
NC_000011.9:g.118963661_118963663del , CM000673.1:g.118963661_118963663del	GRCh37
NC_000011.8:g.118468871_118468873del	NCBI36
NG_008093.1:g.13075_13077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.677_679del	ENSP00000509288.1:p.Gly226del
ENST00000691144.1:n.3057_3059del
ENST00000691249.1:n.1666_1668del
ENST00000442944.7:c.824_826del	ENSP00000392041.3:p.Gly275del
ENST00000640813.1:c.*79_*81del	ENSP00000491061.1:n.*79_*81del
ENST00000648026.1:c.736_738del	ENSP00000498044.1:n.736_738del
ENST00000648374.1:c.791_793del	ENSP00000497255.1:p.Gly264del
ENST00000650101.1:c.773_775del	ENSP00000496970.1:p.Gly258del
ENST00000650307.1:n.1668_1670del
ENST00000652429.1:c.842_844del MANE Select	ENSP00000498786.1:p.Gly281del
ENST00000278715.7:c.842_844del	ENSP00000278715.3:p.Gly281del
ENST00000392841.1:c.791_793del	ENSP00000376584.1:p.Gly264del
ENST00000442944.6:c.791_793del	ENSP00000392041.2:p.Gly264del
ENST00000537841.5:c.791_793del	ENSP00000444730.1:p.Gly264del
ENST00000539045.1:n.341_343del
ENST00000542044.5:n.1287_1289del
ENST00000542729.5:c.671_673del	ENSP00000443058.1:p.Gly224del
ENST00000543090.5:c.749_751del	ENSP00000445429.1:p.Gly250del
ENST00000543543.5:n.1317_1319del
ENST00000544182.1:n.1291_1293del
ENST00000544387.5:c.722_724del	ENSP00000438424.1:p.Gly241del
ENST00000546226.5:n.1604_1606del
NM_000190.3:c.842_844del	NP_000181.2:p.Gly281del
NM_001024382.1:c.791_793del	NP_001019553.1:p.Gly264del
NM_001258208.1:c.722_724del	NP_001245137.1:p.Gly241del
NM_001258209.1:c.671_673del	NP_001245138.1:p.Gly224del
XM_005271531.1:c.791_793del	XP_005271588.1:p.Gly264del
XM_005271532.1:c.791_793del	XP_005271589.1:p.Gly264del
XM_005271533.2:c.788_790del	XP_005271590.1:p.Gly263del
XM_011542796.1:c.677_679del	XP_011541098.1:p.Gly226del
NM_000190.4:c.842_844del MANE Select	NP_000181.2:p.Gly281del
NM_001024382.2:c.791_793del	NP_001019553.1:p.Gly264del
XM_005271533.3:c.788_790del	XP_005271590.1:p.Gly263del
XM_017017629.1:c.791_793del	XP_016873118.1:p.Gly264del
XM_024448460.1:c.668_670del	XP_024304228.1:p.Gly223del
NM_001258208.2:c.722_724del	NP_001245137.1:p.Gly241del
NM_001258209.2:c.671_673del	NP_001245138.1:p.Gly224del