Canonical Allele Identifier: CA382894015

Gene: HMBS

Linked Data

• dbSNP Id: rs1555205895
• gnomAD v4: 11-119091369-GCCCCAGATTGC-G
• MyVariant Identifiers: chr11:g.118962080_118962090del (hg19) ; chr11:g.119091371_119091381del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091372_119091382del , CM000673.2:g.119091372_119091382del	GRCh38
NC_000011.9:g.118962082_118962092del , CM000673.1:g.118962082_118962092del	GRCh37
NC_000011.8:g.118467292_118467302del	NCBI36
NG_008093.1:g.11496_11506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.334-41_334-31del	ENSP00000509288.1:n.334-41_334-31del
ENST00000686690.1:n.1349-41_1349-31del
ENST00000691144.1:n.2240-41_2240-31del
ENST00000691249.1:n.1083-41_1083-31del
ENST00000442944.7:c.481-41_481-31del	ENSP00000392041.3:n.481-41_481-31del
ENST00000534956.2:n.448-489_448-479del
ENST00000536813.6:c.448-41_448-31del	ENSP00000438726.2:n.448-41_448-31del
ENST00000546302.6:c.421-41_421-31del	ENSP00000445599.1:n.421-41_421-31del
ENST00000640813.1:c.448-489_448-479del	ENSP00000491061.1:n.448-489_448-479del
ENST00000648026.1:c.493-489_493-479del	ENSP00000498044.1:n.493-489_493-479del
ENST00000648374.1:c.448-41_448-31del	ENSP00000497255.1:n.448-41_448-31del
ENST00000648488.1:c.*85+116_*85+126del	ENSP00000498079.1:n.*85+116_*85+126del
ENST00000649823.1:n.716-41_716-31del
ENST00000649868.1:c.*207-489_*207-479del	ENSP00000497548.1:n.*207-489_*207-479del
ENST00000650101.1:c.430-41_430-31del	ENSP00000496970.1:n.430-41_430-31del
ENST00000650307.1:n.1325-41_1325-31del
ENST00000652429.1:c.499-41_499-31del MANE Select	ENSP00000498786.1:n.499-41_499-31del
ENST00000278715.7:c.499-41_499-31del	ENSP00000278715.3:n.499-41_499-31del
ENST00000392841.1:c.448-41_448-31del	ENSP00000376584.1:n.448-41_448-31del
ENST00000442944.6:c.448-41_448-31del	ENSP00000392041.2:n.448-41_448-31del
ENST00000534956.1:n.415-489_415-479del
ENST00000535253.5:c.448-41_448-31del	ENSP00000442079.1:n.448-41_448-31del
ENST00000535793.5:c.*394-41_*394-31del	ENSP00000439904.1:n.*394-41_*394-31del
ENST00000537841.5:c.448-41_448-31del	ENSP00000444730.1:n.448-41_448-31del
ENST00000539986.5:c.448-41_448-31del	ENSP00000440092.1:n.448-41_448-31del
ENST00000542044.5:n.944-41_944-31del
ENST00000542345.5:n.637-41_637-31del
ENST00000542729.5:c.448-41_448-31del	ENSP00000443058.1:n.448-41_448-31del
ENST00000542822.5:c.*435-41_*435-31del	ENSP00000444817.1:n.*435-41_*435-31del
ENST00000543090.5:c.445-41_445-31del	ENSP00000445429.1:n.445-41_445-31del
ENST00000543543.5:n.734-41_734-31del
ENST00000544360.5:n.467-41_467-31del
ENST00000544387.5:c.499-41_499-31del	ENSP00000438424.1:n.499-41_499-31del
ENST00000545621.5:c.*394-41_*394-31del	ENSP00000444849.1:n.*394-41_*394-31del
ENST00000546226.5:n.787-41_787-31del
ENST00000546302.5:c.421-41_421-31del	ENSP00000445599.1:n.421-41_421-31del
NM_000190.3:c.499-41_499-31del	NP_000181.2:n.499-41_499-31del
NM_001024382.1:c.448-41_448-31del	NP_001019553.1:n.448-41_448-31del
NM_001258208.1:c.499-41_499-31del	NP_001245137.1:n.499-41_499-31del
NM_001258209.1:c.448-41_448-31del	NP_001245138.1:n.448-41_448-31del
XM_005271531.1:c.448-41_448-31del	XP_005271588.1:n.448-41_448-31del
XM_005271532.1:c.448-41_448-31del	XP_005271589.1:n.448-41_448-31del
XM_005271533.2:c.445-41_445-31del	XP_005271590.1:n.445-41_445-31del
XM_011542796.1:c.334-41_334-31del	XP_011541098.1:n.334-41_334-31del
NM_000190.4:c.499-41_499-31del MANE Select	NP_000181.2:n.499-41_499-31del
NM_001024382.2:c.448-41_448-31del	NP_001019553.1:n.448-41_448-31del
XM_005271533.3:c.445-41_445-31del	XP_005271590.1:n.445-41_445-31del
XM_017017629.1:c.448-41_448-31del	XP_016873118.1:n.448-41_448-31del
XM_024448460.1:c.445-41_445-31del	XP_024304228.1:n.445-41_445-31del
NM_001258208.2:c.499-41_499-31del	NP_001245137.1:n.499-41_499-31del
NM_001258209.2:c.448-41_448-31del	NP_001245138.1:n.448-41_448-31del