Canonical Allele Identifier: CA942779463

Gene: HMBS

Linked Data

• dbSNP Id: rs1946169685
• gnomAD v3: 11-119089147-TC-T
• gnomAD v4: 11-119089147-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089151del , CM000673.2:g.119089151del	GRCh38
NC_000011.9:g.118959861del , CM000673.1:g.118959861del	GRCh37
NC_000011.8:g.118465071del	NCBI36
NG_008093.1:g.9275del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.45+20del	ENSP00000509288.1:n.45+20del
ENST00000686690.1:n.766del
ENST00000691144.1:n.1886del
ENST00000691249.1:n.794+20del
ENST00000442944.7:c.192+20del	ENSP00000392041.3:n.192+20del
ENST00000534956.2:n.159+20del
ENST00000536813.6:c.159+20del	ENSP00000438726.2:n.159+20del
ENST00000546302.6:c.210+20del	ENSP00000445599.1:n.210+20del
ENST00000640813.1:c.159+20del	ENSP00000491061.1:n.159+20del
ENST00000648026.1:c.204+20del	ENSP00000498044.1:n.204+20del
ENST00000648374.1:c.159+20del	ENSP00000497255.1:n.159+20del
ENST00000648488.1:c.159+20del	ENSP00000498079.1:n.159+20del
ENST00000649823.1:n.427+20del
ENST00000649868.1:c.65+20del	ENSP00000497548.1:n.65+20del
ENST00000650101.1:c.141+20del	ENSP00000496970.1:n.141+20del
ENST00000650307.1:n.1036+20del
ENST00000652429.1:c.210+20del MANE Select	ENSP00000498786.1:n.210+20del
ENST00000278715.7:c.210+20del	ENSP00000278715.3:n.210+20del
ENST00000392841.1:c.159+20del	ENSP00000376584.1:n.159+20del
ENST00000442944.6:c.159+20del	ENSP00000392041.2:n.159+20del
ENST00000534956.1:n.126+20del
ENST00000535253.5:c.159+20del	ENSP00000442079.1:n.159+20del
ENST00000535793.5:c.*105+20del	ENSP00000439904.1:n.*105+20del
ENST00000536185.5:n.329-66del
ENST00000536813.5:c.192+20del	ENSP00000438726.1:n.192+20del
ENST00000537841.5:c.159+20del	ENSP00000444730.1:n.159+20del
ENST00000539986.5:c.159+20del	ENSP00000440092.1:n.159+20del
ENST00000542044.5:n.655+20del
ENST00000542345.5:n.348+20del
ENST00000542729.5:c.159+20del	ENSP00000443058.1:n.159+20del
ENST00000542822.5:c.*147-66del	ENSP00000444817.1:n.*147-66del
ENST00000543090.5:c.156+20del	ENSP00000445429.1:n.156+20del
ENST00000543543.5:n.445+20del
ENST00000543821.5:n.356+20del
ENST00000544360.5:n.178+20del
ENST00000544387.5:c.210+20del	ENSP00000438424.1:n.210+20del
ENST00000545621.5:c.*105+20del	ENSP00000444849.1:n.*105+20del
ENST00000546226.5:n.269+20del
ENST00000546302.5:c.210+20del	ENSP00000445599.1:n.210+20del
NM_000190.3:c.210+20del	NP_000181.2:n.210+20del
NM_001024382.1:c.159+20del	NP_001019553.1:n.159+20del
NM_001258208.1:c.210+20del	NP_001245137.1:n.210+20del
NM_001258209.1:c.159+20del	NP_001245138.1:n.159+20del
XM_005271531.1:c.159+20del	XP_005271588.1:n.159+20del
XM_005271532.1:c.159+20del	XP_005271589.1:n.159+20del
XM_005271533.2:c.156+20del	XP_005271590.1:n.156+20del
XM_011542796.1:c.45+20del	XP_011541098.1:n.45+20del
NM_000190.4:c.210+20del MANE Select	NP_000181.2:n.210+20del
NM_001024382.2:c.159+20del	NP_001019553.1:n.159+20del
XM_005271533.3:c.156+20del	XP_005271590.1:n.156+20del
XM_017017629.1:c.159+20del	XP_016873118.1:n.159+20del
XM_024448460.1:c.156+20del	XP_024304228.1:n.156+20del
NM_001258208.2:c.210+20del	NP_001245137.1:n.210+20del
NM_001258209.2:c.159+20del	NP_001245138.1:n.159+20del