Canonical Allele Identifier: CA229597713

Gene: HMBS

Linked Data

• dbSNP Id: rs750746589
• gnomAD v2: 11-118964232-CCTA-C
• gnomAD v3: 11-119093522-CCTA-C
• gnomAD v4: 11-119093522-CCTA-C
• MyVariant Identifiers: chr11:g.118964233_118964235del (hg19) ; chr11:g.119093523_119093525del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093526_119093528del , CM000673.2:g.119093526_119093528del	GRCh38
NC_000011.9:g.118964236_118964238del , CM000673.1:g.118964236_118964238del	GRCh37
NC_000011.8:g.118469446_118469448del	NCBI36
NG_008093.1:g.13650_13652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*243_*245del	ENSP00000509288.1:n.*243_*245del
ENST00000691249.1:n.2153_2155del
ENST00000648374.1:c.*243_*245del	ENSP00000497255.1:n.*243_*245del
ENST00000652429.1:c.*243_*245del MANE Select	ENSP00000498786.1:n.*243_*245del
ENST00000278715.7:c.*243_*245del	ENSP00000278715.3:n.*243_*245del
ENST00000392841.1:c.*243_*245del	ENSP00000376584.1:n.*243_*245del
ENST00000442944.6:c.*243_*245del	ENSP00000392041.2:n.*243_*245del
ENST00000539045.1:n.828_830del
ENST00000542729.5:c.*243_*245del	ENSP00000443058.1:n.*243_*245del
ENST00000543090.5:c.*243_*245del	ENSP00000445429.1:n.*243_*245del
ENST00000544387.5:c.*243_*245del	ENSP00000438424.1:n.*243_*245del
ENST00000546226.5:n.2091_2093del
NM_000190.3:c.*243_*245del	NP_000181.2:n.*243_*245del
NM_001024382.1:c.*243_*245del	NP_001019553.1:n.*243_*245del
NM_001258208.1:c.*243_*245del	NP_001245137.1:n.*243_*245del
NM_001258209.1:c.*243_*245del	NP_001245138.1:n.*243_*245del
XM_005271531.1:c.*243_*245del	XP_005271588.1:n.*243_*245del
XM_005271532.1:c.*243_*245del	XP_005271589.1:n.*243_*245del
XM_005271533.2:c.*243_*245del	XP_005271590.1:n.*243_*245del
XM_011542796.1:c.*243_*245del	XP_011541098.1:n.*243_*245del
NM_000190.4:c.*243_*245del MANE Select	NP_000181.2:n.*243_*245del
NM_001024382.2:c.*243_*245del	NP_001019553.1:n.*243_*245del
XM_005271533.3:c.*243_*245del	XP_005271590.1:n.*243_*245del
XM_017017629.1:c.*243_*245del	XP_016873118.1:n.*243_*245del
XM_024448460.1:c.*243_*245del	XP_024304228.1:n.*243_*245del
NM_001258208.2:c.*243_*245del	NP_001245137.1:n.*243_*245del
NM_001258209.2:c.*243_*245del	NP_001245138.1:n.*243_*245del