Canonical Allele Identifier: CA672375669

Gene: HMBS

Linked Data

• dbSNP Id: rs1396146207
• gnomAD v4: 11-119089558-GAGA-G
• MyVariant Identifiers: chr11:g.118960269_118960271del (hg19) ; chr11:g.119089559_119089561del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089561_119089563del , CM000673.2:g.119089561_119089563del	GRCh38
NC_000011.9:g.118960271_118960273del , CM000673.1:g.118960271_118960273del	GRCh37
NC_000011.8:g.118465481_118465483del	NCBI36
NG_008093.1:g.9685_9687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.102-122_102-120del	ENSP00000509288.1:n.102-122_102-120del
ENST00000686690.1:n.888-122_888-120del
ENST00000691144.1:n.2008-122_2008-120del
ENST00000691249.1:n.851-122_851-120del
ENST00000442944.7:c.249-122_249-120del	ENSP00000392041.3:n.249-122_249-120del
ENST00000534956.2:n.216-122_216-120del
ENST00000536813.6:c.216-122_216-120del	ENSP00000438726.2:n.216-122_216-120del
ENST00000546302.6:c.266+289_266+291del	ENSP00000445599.1:n.266+289_266+291del
ENST00000640813.1:c.216-122_216-120del	ENSP00000491061.1:n.216-122_216-120del
ENST00000648026.1:c.261-122_261-120del	ENSP00000498044.1:n.261-122_261-120del
ENST00000648374.1:c.216-122_216-120del	ENSP00000497255.1:n.216-122_216-120del
ENST00000648488.1:c.216-122_216-120del	ENSP00000498079.1:n.216-122_216-120del
ENST00000649823.1:n.484-122_484-120del
ENST00000649868.1:c.122-122_122-120del	ENSP00000497548.1:n.122-122_122-120del
ENST00000650101.1:c.198-122_198-120del	ENSP00000496970.1:n.198-122_198-120del
ENST00000650307.1:n.1093-122_1093-120del
ENST00000652429.1:c.267-122_267-120del MANE Select	ENSP00000498786.1:n.267-122_267-120del
ENST00000278715.7:c.267-122_267-120del	ENSP00000278715.3:n.267-122_267-120del
ENST00000392841.1:c.216-122_216-120del	ENSP00000376584.1:n.216-122_216-120del
ENST00000442944.6:c.216-122_216-120del	ENSP00000392041.2:n.216-122_216-120del
ENST00000534956.1:n.183-122_183-120del
ENST00000535253.5:c.216-122_216-120del	ENSP00000442079.1:n.216-122_216-120del
ENST00000535793.5:c.*162-122_*162-120del	ENSP00000439904.1:n.*162-122_*162-120del
ENST00000536185.5:n.385-122_385-120del
ENST00000536813.5:c.249-122_249-120del	ENSP00000438726.1:n.249-122_249-120del
ENST00000537841.5:c.216-122_216-120del	ENSP00000444730.1:n.216-122_216-120del
ENST00000539986.5:c.216-122_216-120del	ENSP00000440092.1:n.216-122_216-120del
ENST00000542044.5:n.712-122_712-120del
ENST00000542345.5:n.405-122_405-120del
ENST00000542729.5:c.216-122_216-120del	ENSP00000443058.1:n.216-122_216-120del
ENST00000542822.5:c.*203-122_*203-120del	ENSP00000444817.1:n.*203-122_*203-120del
ENST00000543090.5:c.213-122_213-120del	ENSP00000445429.1:n.213-122_213-120del
ENST00000543543.5:n.502-122_502-120del
ENST00000543821.5:n.413-122_413-120del
ENST00000544360.5:n.235-122_235-120del
ENST00000544387.5:c.267-122_267-120del	ENSP00000438424.1:n.267-122_267-120del
ENST00000545621.5:c.*162-122_*162-120del	ENSP00000444849.1:n.*162-122_*162-120del
ENST00000546226.5:n.326-122_326-120del
ENST00000546302.5:c.266+289_266+291del	ENSP00000445599.1:n.266+289_266+291del
NM_000190.3:c.267-122_267-120del	NP_000181.2:n.267-122_267-120del
NM_001024382.1:c.216-122_216-120del	NP_001019553.1:n.216-122_216-120del
NM_001258208.1:c.267-122_267-120del	NP_001245137.1:n.267-122_267-120del
NM_001258209.1:c.216-122_216-120del	NP_001245138.1:n.216-122_216-120del
XM_005271531.1:c.216-122_216-120del	XP_005271588.1:n.216-122_216-120del
XM_005271532.1:c.216-122_216-120del	XP_005271589.1:n.216-122_216-120del
XM_005271533.2:c.213-122_213-120del	XP_005271590.1:n.213-122_213-120del
XM_011542796.1:c.102-122_102-120del	XP_011541098.1:n.102-122_102-120del
NM_000190.4:c.267-122_267-120del MANE Select	NP_000181.2:n.267-122_267-120del
NM_001024382.2:c.216-122_216-120del	NP_001019553.1:n.216-122_216-120del
XM_005271533.3:c.213-122_213-120del	XP_005271590.1:n.213-122_213-120del
XM_017017629.1:c.216-122_216-120del	XP_016873118.1:n.216-122_216-120del
XM_024448460.1:c.213-122_213-120del	XP_024304228.1:n.213-122_213-120del
NM_001258208.2:c.267-122_267-120del	NP_001245137.1:n.267-122_267-120del
NM_001258209.2:c.216-122_216-120del	NP_001245138.1:n.216-122_216-120del