Canonical Allele Identifier: CA6314005

Gene: HMBS

Linked Data

• ClinVar Variation Id: 598268
• ClinVar RCV Id: RCV000734620
• dbSNP Id: rs747989567
• ExAC: 11:118960387 CTA / C
• gnomAD v2: 11-118960387-CTA-C
• gnomAD v3: 11-119089677-CTA-C
• gnomAD v4: 11-119089677-CTA-C
• MyVariant Identifiers: chr11:g.118960388_118960389del (hg19) ; chr11:g.119089679_119089680del (hg38) ; chr11:g.119089678_119089679del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089680_119089681del , CM000673.2:g.119089680_119089681del	GRCh38
NC_000011.9:g.118960390_118960391del , CM000673.1:g.118960390_118960391del	GRCh37
NC_000011.8:g.118465600_118465601del	NCBI36
NG_008093.1:g.9804_9805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.102-3_102-2del	ENSP00000509288.1:n.102-3_102-2del
ENST00000686690.1:n.888-3_888-2del
ENST00000691144.1:n.2008-3_2008-2del
ENST00000691249.1:n.851-3_851-2del
ENST00000442944.7:c.249-3_249-2del	ENSP00000392041.3:n.249-3_249-2del
ENST00000534956.2:n.216-3_216-2del
ENST00000536813.6:c.216-3_216-2del	ENSP00000438726.2:n.216-3_216-2del
ENST00000546302.6:c.267-310_267-309del	ENSP00000445599.1:n.267-310_267-309del
ENST00000640813.1:c.216-3_216-2del	ENSP00000491061.1:n.216-3_216-2del
ENST00000648026.1:c.261-3_261-2del	ENSP00000498044.1:n.261-3_261-2del
ENST00000648374.1:c.216-3_216-2del	ENSP00000497255.1:n.216-3_216-2del
ENST00000648488.1:c.216-3_216-2del	ENSP00000498079.1:n.216-3_216-2del
ENST00000649823.1:n.484-3_484-2del
ENST00000649868.1:c.122-3_122-2del	ENSP00000497548.1:n.122-3_122-2del
ENST00000650101.1:c.198-3_198-2del	ENSP00000496970.1:n.198-3_198-2del
ENST00000650307.1:n.1093-3_1093-2del
ENST00000652429.1:c.267-3_267-2del MANE Select	ENSP00000498786.1:n.267-3_267-2del
ENST00000278715.7:c.267-3_267-2del	ENSP00000278715.3:n.267-3_267-2del
ENST00000392841.1:c.216-3_216-2del	ENSP00000376584.1:n.216-3_216-2del
ENST00000442944.6:c.216-3_216-2del	ENSP00000392041.2:n.216-3_216-2del
ENST00000534956.1:n.183-3_183-2del
ENST00000535253.5:c.216-3_216-2del	ENSP00000442079.1:n.216-3_216-2del
ENST00000535793.5:c.*162-3_*162-2del	ENSP00000439904.1:n.*162-3_*162-2del
ENST00000536185.5:n.385-3_385-2del
ENST00000536813.5:c.249-3_249-2del	ENSP00000438726.1:n.249-3_249-2del
ENST00000537841.5:c.216-3_216-2del	ENSP00000444730.1:n.216-3_216-2del
ENST00000539986.5:c.216-3_216-2del	ENSP00000440092.1:n.216-3_216-2del
ENST00000542044.5:n.712-3_712-2del
ENST00000542345.5:n.405-3_405-2del
ENST00000542729.5:c.216-3_216-2del	ENSP00000443058.1:n.216-3_216-2del
ENST00000542822.5:c.*203-3_*203-2del	ENSP00000444817.1:n.*203-3_*203-2del
ENST00000543090.5:c.213-3_213-2del	ENSP00000445429.1:n.213-3_213-2del
ENST00000543543.5:n.502-3_502-2del
ENST00000543821.5:n.413-3_413-2del
ENST00000544360.5:n.235-3_235-2del
ENST00000544387.5:c.267-3_267-2del	ENSP00000438424.1:n.267-3_267-2del
ENST00000545621.5:c.*162-3_*162-2del	ENSP00000444849.1:n.*162-3_*162-2del
ENST00000546226.5:n.326-3_326-2del
ENST00000546302.5:c.267-310_267-309del	ENSP00000445599.1:n.267-310_267-309del
NM_000190.3:c.267-3_267-2del	NP_000181.2:n.267-3_267-2del
NM_001024382.1:c.216-3_216-2del	NP_001019553.1:n.216-3_216-2del
NM_001258208.1:c.267-3_267-2del	NP_001245137.1:n.267-3_267-2del
NM_001258209.1:c.216-3_216-2del	NP_001245138.1:n.216-3_216-2del
XM_005271531.1:c.216-3_216-2del	XP_005271588.1:n.216-3_216-2del
XM_005271532.1:c.216-3_216-2del	XP_005271589.1:n.216-3_216-2del
XM_005271533.2:c.213-3_213-2del	XP_005271590.1:n.213-3_213-2del
XM_011542796.1:c.102-3_102-2del	XP_011541098.1:n.102-3_102-2del
NM_000190.4:c.267-3_267-2del MANE Select	NP_000181.2:n.267-3_267-2del
NM_001024382.2:c.216-3_216-2del	NP_001019553.1:n.216-3_216-2del
XM_005271533.3:c.213-3_213-2del	XP_005271590.1:n.213-3_213-2del
XM_017017629.1:c.216-3_216-2del	XP_016873118.1:n.216-3_216-2del
XM_024448460.1:c.213-3_213-2del	XP_024304228.1:n.213-3_213-2del
NM_001258208.2:c.267-3_267-2del	NP_001245137.1:n.267-3_267-2del
NM_001258209.2:c.216-3_216-2del	NP_001245138.1:n.216-3_216-2del