Canonical Allele Identifier: CA6314283

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1507809
• ClinVar RCV Id: RCV002009587
• dbSNP Id: rs777315199
• ExAC: 11:118963815 TAC / T
• gnomAD v2: 11-118963815-TAC-T
• gnomAD v3: 11-119093105-TAC-T
• gnomAD v4: 11-119093105-TAC-T
• MyVariant Identifiers: chr11:g.118963816_118963817del (hg19) ; chr11:g.119093107_119093108del (hg38) ; chr11:g.119093106_119093107del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093107_119093108del , CM000673.2:g.119093107_119093108del	GRCh38
NC_000011.9:g.118963817_118963818del , CM000673.1:g.118963817_118963818del	GRCh37
NC_000011.8:g.118469027_118469028del	NCBI36
NG_008093.1:g.13231_13232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.748-3_748-2del	ENSP00000509288.1:n.748-3_748-2del
ENST00000691144.1:n.3128-3_3128-2del
ENST00000691249.1:n.1737-3_1737-2del
ENST00000442944.7:c.895-3_895-2del	ENSP00000392041.3:n.895-3_895-2del
ENST00000640813.1:c.*150-3_*150-2del	ENSP00000491061.1:n.*150-3_*150-2del
ENST00000648026.1:c.807-3_807-2del	ENSP00000498044.1:n.807-3_807-2del
ENST00000648374.1:c.862-3_862-2del	ENSP00000497255.1:n.862-3_862-2del
ENST00000650101.1:c.844-3_844-2del	ENSP00000496970.1:n.844-3_844-2del
ENST00000650307.1:n.1739-3_1739-2del
ENST00000652429.1:c.913-3_913-2del MANE Select	ENSP00000498786.1:n.913-3_913-2del
ENST00000278715.7:c.913-3_913-2del	ENSP00000278715.3:n.913-3_913-2del
ENST00000392841.1:c.862-3_862-2del	ENSP00000376584.1:n.862-3_862-2del
ENST00000442944.6:c.862-3_862-2del	ENSP00000392041.2:n.862-3_862-2del
ENST00000537841.5:c.862-3_862-2del	ENSP00000444730.1:n.862-3_862-2del
ENST00000539045.1:n.412-3_412-2del
ENST00000542044.5:n.1358-3_1358-2del
ENST00000542729.5:c.742-3_742-2del	ENSP00000443058.1:n.742-3_742-2del
ENST00000543090.5:c.820-3_820-2del	ENSP00000445429.1:n.820-3_820-2del
ENST00000543543.5:n.1388-3_1388-2del
ENST00000544182.1:n.1362-3_1362-2del
ENST00000544387.5:c.793-3_793-2del	ENSP00000438424.1:n.793-3_793-2del
ENST00000546226.5:n.1675-3_1675-2del
NM_000190.3:c.913-3_913-2del	NP_000181.2:n.913-3_913-2del
NM_001024382.1:c.862-3_862-2del	NP_001019553.1:n.862-3_862-2del
NM_001258208.1:c.793-3_793-2del	NP_001245137.1:n.793-3_793-2del
NM_001258209.1:c.742-3_742-2del	NP_001245138.1:n.742-3_742-2del
XM_005271531.1:c.862-3_862-2del	XP_005271588.1:n.862-3_862-2del
XM_005271532.1:c.862-3_862-2del	XP_005271589.1:n.862-3_862-2del
XM_005271533.2:c.859-3_859-2del	XP_005271590.1:n.859-3_859-2del
XM_011542796.1:c.748-3_748-2del	XP_011541098.1:n.748-3_748-2del
NM_000190.4:c.913-3_913-2del MANE Select	NP_000181.2:n.913-3_913-2del
NM_001024382.2:c.862-3_862-2del	NP_001019553.1:n.862-3_862-2del
XM_005271533.3:c.859-3_859-2del	XP_005271590.1:n.859-3_859-2del
XM_017017629.1:c.862-3_862-2del	XP_016873118.1:n.862-3_862-2del
XM_024448460.1:c.739-3_739-2del	XP_024304228.1:n.739-3_739-2del
NM_001258208.2:c.793-3_793-2del	NP_001245137.1:n.793-3_793-2del
NM_001258209.2:c.742-3_742-2del	NP_001245138.1:n.742-3_742-2del