Canonical Allele Identifier: CA2695215816

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092153_119092155del , CM000673.2:g.119092153_119092155del	GRCh38
NC_000011.9:g.118962863_118962865del , CM000673.1:g.118962863_118962865del	GRCh37
NC_000011.8:g.118468073_118468075del	NCBI36
NG_008093.1:g.12277_12279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.476_478del	ENSP00000509288.1:p.Ala159del
ENST00000691144.1:n.2382_2384del
ENST00000691249.1:n.1225_1227del
ENST00000442944.7:c.623_625del	ENSP00000392041.3:p.Ala208del
ENST00000536813.6:c.590_592del	ENSP00000438726.2:p.Ala197del
ENST00000546302.6:c.563_565del	ENSP00000445599.1:p.Ala188del
ENST00000640813.1:c.462-251_462-249del	ENSP00000491061.1:n.462-251_462-249del
ENST00000648026.1:c.535_537del	ENSP00000498044.1:p.Leu179del
ENST00000648374.1:c.590_592del	ENSP00000497255.1:p.Ala197del
ENST00000648488.1:c.*114_*116del	ENSP00000498079.1:n.*114_*116del
ENST00000649823.1:n.858_860del
ENST00000650101.1:c.572_574del	ENSP00000496970.1:p.Ala191del
ENST00000650307.1:n.1467_1469del
ENST00000652429.1:c.641_643del MANE Select	ENSP00000498786.1:p.Ala214del
ENST00000278715.7:c.641_643del	ENSP00000278715.3:p.Ala214del
ENST00000392841.1:c.590_592del	ENSP00000376584.1:p.Ala197del
ENST00000442944.6:c.590_592del	ENSP00000392041.2:p.Ala197del
ENST00000537841.5:c.590_592del	ENSP00000444730.1:p.Ala197del
ENST00000542044.5:n.1086_1088del
ENST00000542345.5:n.779_781del
ENST00000542729.5:c.590_592del	ENSP00000443058.1:p.Ala197del
ENST00000543090.5:c.559-251_559-249del	ENSP00000445429.1:n.559-251_559-249del
ENST00000543543.5:n.876_878del
ENST00000544182.1:n.616_618del
ENST00000544387.5:c.641_643del	ENSP00000438424.1:p.Ala214del
ENST00000545621.5:c.*536_*538del	ENSP00000444849.1:n.*536_*538del
ENST00000546226.5:n.929_931del
ENST00000546302.5:c.563_565del	ENSP00000445599.1:p.Ala188del
NM_000190.3:c.641_643del	NP_000181.2:p.Ala214del
NM_001024382.1:c.590_592del	NP_001019553.1:p.Ala197del
NM_001258208.1:c.641_643del	NP_001245137.1:p.Ala214del
NM_001258209.1:c.590_592del	NP_001245138.1:p.Ala197del
XM_005271531.1:c.590_592del	XP_005271588.1:p.Ala197del
XM_005271532.1:c.590_592del	XP_005271589.1:p.Ala197del
XM_005271533.2:c.587_589del	XP_005271590.1:p.Ala196del
XM_011542796.1:c.476_478del	XP_011541098.1:p.Ala159del
NM_000190.4:c.641_643del MANE Select	NP_000181.2:p.Ala214del
NM_001024382.2:c.590_592del	NP_001019553.1:p.Ala197del
XM_005271533.3:c.587_589del	XP_005271590.1:p.Ala196del
XM_017017629.1:c.590_592del	XP_016873118.1:p.Ala197del
XM_024448460.1:c.587_589del	XP_024304228.1:p.Ala196del
NM_001258208.2:c.641_643del	NP_001245137.1:p.Ala214del
NM_001258209.2:c.590_592del	NP_001245138.1:p.Ala197del