Canonical Allele Identifier: CA2739271775

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2833884
• ClinVar RCV Id: RCV003692221

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092178_119092185del , CM000673.2:g.119092178_119092185del	GRCh38
NC_000011.9:g.118962888_118962895del , CM000673.1:g.118962888_118962895del	GRCh37
NC_000011.8:g.118468098_118468105del	NCBI36
NG_008093.1:g.12302_12309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.486+15_486+22del	ENSP00000509288.1:n.486+15_486+22del
ENST00000691144.1:n.2407_2414del
ENST00000691249.1:n.1250_1257del
ENST00000442944.7:c.633+15_633+22del	ENSP00000392041.3:n.633+15_633+22del
ENST00000536813.6:c.600+15_600+22del	ENSP00000438726.2:n.600+15_600+22del
ENST00000640813.1:c.462-226_462-219del	ENSP00000491061.1:n.462-226_462-219del
ENST00000648026.1:c.545+15_545+22del	ENSP00000498044.1:n.545+15_545+22del
ENST00000648374.1:c.600+15_600+22del	ENSP00000497255.1:n.600+15_600+22del
ENST00000649823.1:n.883_890del
ENST00000650101.1:c.582+15_582+22del	ENSP00000496970.1:n.582+15_582+22del
ENST00000650307.1:n.1477+15_1477+22del
ENST00000652429.1:c.651+15_651+22del MANE Select	ENSP00000498786.1:n.651+15_651+22del
ENST00000278715.7:c.651+15_651+22del	ENSP00000278715.3:n.651+15_651+22del
ENST00000392841.1:c.600+15_600+22del	ENSP00000376584.1:n.600+15_600+22del
ENST00000442944.6:c.600+15_600+22del	ENSP00000392041.2:n.600+15_600+22del
ENST00000537841.5:c.600+15_600+22del	ENSP00000444730.1:n.600+15_600+22del
ENST00000542044.5:n.1096+15_1096+22del
ENST00000542345.5:n.804_811del
ENST00000542729.5:c.600+15_600+22del	ENSP00000443058.1:n.600+15_600+22del
ENST00000543090.5:c.559-226_559-219del	ENSP00000445429.1:n.559-226_559-219del
ENST00000543543.5:n.901_908del
ENST00000544182.1:n.641_648del
ENST00000544387.5:c.651+15_651+22del	ENSP00000438424.1:n.651+15_651+22del
ENST00000545621.5:c.*561_*568del	ENSP00000444849.1:n.*561_*568del
ENST00000546226.5:n.954_961del
NM_000190.3:c.651+15_651+22del	NP_000181.2:n.651+15_651+22del
NM_001024382.1:c.600+15_600+22del	NP_001019553.1:n.600+15_600+22del
NM_001258208.1:c.651+15_651+22del	NP_001245137.1:n.651+15_651+22del
NM_001258209.1:c.600+15_600+22del	NP_001245138.1:n.600+15_600+22del
XM_005271531.1:c.600+15_600+22del	XP_005271588.1:n.600+15_600+22del
XM_005271532.1:c.600+15_600+22del	XP_005271589.1:n.600+15_600+22del
XM_005271533.2:c.597+15_597+22del	XP_005271590.1:n.597+15_597+22del
XM_011542796.1:c.486+15_486+22del	XP_011541098.1:n.486+15_486+22del
NM_000190.4:c.651+15_651+22del MANE Select	NP_000181.2:n.651+15_651+22del
NM_001024382.2:c.600+15_600+22del	NP_001019553.1:n.600+15_600+22del
XM_005271533.3:c.597+15_597+22del	XP_005271590.1:n.597+15_597+22del
XM_017017629.1:c.600+15_600+22del	XP_016873118.1:n.600+15_600+22del
XM_024448460.1:c.597+15_597+22del	XP_024304228.1:n.597+15_597+22del
NM_001258208.2:c.651+15_651+22del	NP_001245137.1:n.651+15_651+22del
NM_001258209.2:c.600+15_600+22del	NP_001245138.1:n.600+15_600+22del