Canonical Allele Identifier: CA2616354996

Gene: HMBS

Linked Data

• gnomAD v4: 11-119089166-CTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089171_119089173del , CM000673.2:g.119089171_119089173del	GRCh38
NC_000011.9:g.118959881_118959883del , CM000673.1:g.118959881_118959883del	GRCh37
NC_000011.8:g.118465091_118465093del	NCBI36
NG_008093.1:g.9295_9297del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.45+40_45+42del	ENSP00000509288.1:n.45+40_45+42del
ENST00000686690.1:n.786_788del
ENST00000691144.1:n.1906_1908del
ENST00000691249.1:n.794+40_794+42del
ENST00000442944.7:c.192+40_192+42del	ENSP00000392041.3:n.192+40_192+42del
ENST00000534956.2:n.159+40_159+42del
ENST00000536813.6:c.159+40_159+42del	ENSP00000438726.2:n.159+40_159+42del
ENST00000546302.6:c.210+40_210+42del	ENSP00000445599.1:n.210+40_210+42del
ENST00000640813.1:c.159+40_159+42del	ENSP00000491061.1:n.159+40_159+42del
ENST00000648026.1:c.204+40_204+42del	ENSP00000498044.1:n.204+40_204+42del
ENST00000648374.1:c.159+40_159+42del	ENSP00000497255.1:n.159+40_159+42del
ENST00000648488.1:c.159+40_159+42del	ENSP00000498079.1:n.159+40_159+42del
ENST00000649823.1:n.427+40_427+42del
ENST00000649868.1:c.65+40_65+42del	ENSP00000497548.1:n.65+40_65+42del
ENST00000650101.1:c.141+40_141+42del	ENSP00000496970.1:n.141+40_141+42del
ENST00000650307.1:n.1036+40_1036+42del
ENST00000652429.1:c.210+40_210+42del MANE Select	ENSP00000498786.1:n.210+40_210+42del
ENST00000278715.7:c.210+40_210+42del	ENSP00000278715.3:n.210+40_210+42del
ENST00000392841.1:c.159+40_159+42del	ENSP00000376584.1:n.159+40_159+42del
ENST00000442944.6:c.159+40_159+42del	ENSP00000392041.2:n.159+40_159+42del
ENST00000534956.1:n.126+40_126+42del
ENST00000535253.5:c.159+40_159+42del	ENSP00000442079.1:n.159+40_159+42del
ENST00000535793.5:c.*105+40_*105+42del	ENSP00000439904.1:n.*105+40_*105+42del
ENST00000536185.5:n.329-46_329-44del
ENST00000536813.5:c.192+40_192+42del	ENSP00000438726.1:n.192+40_192+42del
ENST00000537841.5:c.159+40_159+42del	ENSP00000444730.1:n.159+40_159+42del
ENST00000539986.5:c.159+40_159+42del	ENSP00000440092.1:n.159+40_159+42del
ENST00000542044.5:n.655+40_655+42del
ENST00000542345.5:n.348+40_348+42del
ENST00000542729.5:c.159+40_159+42del	ENSP00000443058.1:n.159+40_159+42del
ENST00000542822.5:c.*147-46_*147-44del	ENSP00000444817.1:n.*147-46_*147-44del
ENST00000543090.5:c.156+40_156+42del	ENSP00000445429.1:n.156+40_156+42del
ENST00000543543.5:n.445+40_445+42del
ENST00000543821.5:n.356+40_356+42del
ENST00000544360.5:n.178+40_178+42del
ENST00000544387.5:c.210+40_210+42del	ENSP00000438424.1:n.210+40_210+42del
ENST00000545621.5:c.*105+40_*105+42del	ENSP00000444849.1:n.*105+40_*105+42del
ENST00000546226.5:n.269+40_269+42del
ENST00000546302.5:c.210+40_210+42del	ENSP00000445599.1:n.210+40_210+42del
NM_000190.3:c.210+40_210+42del	NP_000181.2:n.210+40_210+42del
NM_001024382.1:c.159+40_159+42del	NP_001019553.1:n.159+40_159+42del
NM_001258208.1:c.210+40_210+42del	NP_001245137.1:n.210+40_210+42del
NM_001258209.1:c.159+40_159+42del	NP_001245138.1:n.159+40_159+42del
XM_005271531.1:c.159+40_159+42del	XP_005271588.1:n.159+40_159+42del
XM_005271532.1:c.159+40_159+42del	XP_005271589.1:n.159+40_159+42del
XM_005271533.2:c.156+40_156+42del	XP_005271590.1:n.156+40_156+42del
XM_011542796.1:c.45+40_45+42del	XP_011541098.1:n.45+40_45+42del
NM_000190.4:c.210+40_210+42del MANE Select	NP_000181.2:n.210+40_210+42del
NM_001024382.2:c.159+40_159+42del	NP_001019553.1:n.159+40_159+42del
XM_005271533.3:c.156+40_156+42del	XP_005271590.1:n.156+40_156+42del
XM_017017629.1:c.159+40_159+42del	XP_016873118.1:n.159+40_159+42del
XM_024448460.1:c.156+40_156+42del	XP_024304228.1:n.156+40_156+42del
NM_001258208.2:c.210+40_210+42del	NP_001245137.1:n.210+40_210+42del
NM_001258209.2:c.159+40_159+42del	NP_001245138.1:n.159+40_159+42del