Canonical Allele Identifier: CA2616354966

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092486-TTCGCTGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092493_119092500del , CM000673.2:g.119092493_119092500del	GRCh38
NC_000011.9:g.118963203_118963210del , CM000673.1:g.118963203_118963210del	GRCh37
NC_000011.8:g.118468413_118468420del	NCBI36
NG_008093.1:g.12617_12624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.576_583del	ENSP00000509288.1:p.Cys192Ter
ENST00000691144.1:n.2722_2729del
ENST00000691249.1:n.1565_1572del
ENST00000442944.7:c.723_730del	ENSP00000392041.3:p.Cys241Ter
ENST00000640813.1:c.551_558del	ENSP00000491061.1:p.Ala184GlufsTer?
ENST00000648026.1:c.635_642del	ENSP00000498044.1:p.Ala212GlufsTer?
ENST00000648374.1:c.690_697del	ENSP00000497255.1:p.Cys230Ter
ENST00000649823.1:n.1198_1205del
ENST00000650101.1:c.672_679del	ENSP00000496970.1:p.Cys224Ter
ENST00000650307.1:n.1567_1574del
ENST00000652429.1:c.741_748del MANE Select	ENSP00000498786.1:p.Cys247Ter
ENST00000278715.7:c.741_748del	ENSP00000278715.3:p.Cys247Ter
ENST00000392841.1:c.690_697del	ENSP00000376584.1:p.Cys230Ter
ENST00000442944.6:c.690_697del	ENSP00000392041.2:p.Cys230Ter
ENST00000537841.5:c.690_697del	ENSP00000444730.1:p.Cys230Ter
ENST00000542044.5:n.1186_1193del
ENST00000542729.5:c.601-265_601-258del	ENSP00000443058.1:n.601-265_601-258del
ENST00000543090.5:c.648_655del	ENSP00000445429.1:p.Cys216Ter
ENST00000543543.5:n.1216_1223del
ENST00000544182.1:n.956_963del
ENST00000544387.5:c.652-265_652-258del	ENSP00000438424.1:n.652-265_652-258del
ENST00000545621.5:c.*876_*883del	ENSP00000444849.1:n.*876_*883del
ENST00000546226.5:n.1269_1276del
NM_000190.3:c.741_748del	NP_000181.2:p.Cys247Ter
NM_001024382.1:c.690_697del	NP_001019553.1:p.Cys230Ter
NM_001258208.1:c.652-265_652-258del	NP_001245137.1:n.652-265_652-258del
NM_001258209.1:c.601-265_601-258del	NP_001245138.1:n.601-265_601-258del
XM_005271531.1:c.690_697del	XP_005271588.1:p.Cys230Ter
XM_005271532.1:c.690_697del	XP_005271589.1:p.Cys230Ter
XM_005271533.2:c.687_694del	XP_005271590.1:p.Cys229Ter
XM_011542796.1:c.576_583del	XP_011541098.1:p.Cys192Ter
NM_000190.4:c.741_748del MANE Select	NP_000181.2:p.Cys247Ter
NM_001024382.2:c.690_697del	NP_001019553.1:p.Cys230Ter
XM_005271533.3:c.687_694del	XP_005271590.1:p.Cys229Ter
XM_017017629.1:c.690_697del	XP_016873118.1:p.Cys230Ter
XM_024448460.1:c.598-265_598-258del	XP_024304228.1:n.598-265_598-258del
NM_001258208.2:c.652-265_652-258del	NP_001245137.1:n.652-265_652-258del
NM_001258209.2:c.601-265_601-258del	NP_001245138.1:n.601-265_601-258del