Canonical Allele Identifier: CA672373019

Gene: HMBS

Linked Data

• dbSNP Id: rs1305089677
• gnomAD v3: 11-119085289-T-TGGAA
• gnomAD v4: 11-119085289-T-TGGAA
• MyVariant Identifiers: chr11:g.118955999_118956000insGGAA (hg19) ; chr11:g.119085289_119085290insGGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085293_119085296dup , CM000673.2:g.119085293_119085296dup	GRCh38
NC_000011.9:g.118956003_118956006dup , CM000673.1:g.118956003_118956006dup	GRCh37
NC_000011.8:g.118461213_118461216dup	NCBI36
NG_008093.1:g.5417_5420dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-679_-676dup	ENSP00000509288.1:n.-679_-676dup
ENST00000691249.1:n.71_74dup
ENST00000442944.7:c.33+227_33+230dup	ENSP00000392041.3:n.33+227_33+230dup
ENST00000534956.2:n.36+227_36+230dup
ENST00000536813.6:c.-102+227_-102+230dup	ENSP00000438726.2:n.-102+227_-102+230dup
ENST00000546302.6:c.33+227_33+230dup	ENSP00000445599.1:n.33+227_33+230dup
ENST00000640813.1:c.-19+227_-19+230dup	ENSP00000491061.1:n.-19+227_-19+230dup
ENST00000648026.1:c.27+227_27+230dup	ENSP00000498044.1:n.27+227_27+230dup
ENST00000649823.1:n.4_7dup
ENST00000649868.1:c.33+227_33+230dup	ENSP00000497548.1:n.33+227_33+230dup
ENST00000650101.1:c.-619_-616dup	ENSP00000496970.1:n.-619_-616dup
ENST00000650307.1:n.50_53dup
ENST00000652429.1:c.33+227_33+230dup MANE Select	ENSP00000498786.1:n.33+227_33+230dup
ENST00000278715.7:c.33+227_33+230dup	ENSP00000278715.3:n.33+227_33+230dup
ENST00000442944.6:c.-102+227_-102+230dup	ENSP00000392041.2:n.-102+227_-102+230dup
ENST00000535793.5:c.33+227_33+230dup	ENSP00000439904.1:n.33+227_33+230dup
ENST00000536185.5:n.201+227_201+230dup
ENST00000536813.5:c.33+227_33+230dup	ENSP00000438726.1:n.33+227_33+230dup
ENST00000537841.5:c.-19+136_-19+139dup	ENSP00000444730.1:n.-19+136_-19+139dup
ENST00000542044.5:n.158+227_158+230dup
ENST00000542729.5:c.-19+136_-19+139dup	ENSP00000443058.1:n.-19+136_-19+139dup
ENST00000542822.5:c.124+136_124+139dup	ENSP00000444817.1:n.124+136_124+139dup
ENST00000543090.5:c.33+227_33+230dup	ENSP00000445429.1:n.33+227_33+230dup
ENST00000543821.5:n.179+227_179+230dup
ENST00000544387.5:c.33+227_33+230dup	ENSP00000438424.1:n.33+227_33+230dup
ENST00000545621.5:c.33+227_33+230dup	ENSP00000444849.1:n.33+227_33+230dup
ENST00000545901.5:n.186+227_186+230dup
ENST00000546302.5:c.33+227_33+230dup	ENSP00000445599.1:n.33+227_33+230dup
NM_000190.3:c.33+227_33+230dup	NP_000181.2:n.33+227_33+230dup
NM_001258208.1:c.33+227_33+230dup	NP_001245137.1:n.33+227_33+230dup
NM_001258209.1:c.-19+136_-19+139dup	NP_001245138.1:n.-19+136_-19+139dup
XM_005271531.1:c.-19+136_-19+139dup	XP_005271588.1:n.-19+136_-19+139dup
XM_005271532.1:c.-19+160_-19+163dup	XP_005271589.1:n.-19+160_-19+163dup
XM_005271533.2:c.33+227_33+230dup	XP_005271590.1:n.33+227_33+230dup
NM_000190.4:c.33+227_33+230dup MANE Select	NP_000181.2:n.33+227_33+230dup
XM_005271533.3:c.33+227_33+230dup	XP_005271590.1:n.33+227_33+230dup
XM_024448460.1:c.33+227_33+230dup	XP_024304228.1:n.33+227_33+230dup
NM_001258208.2:c.33+227_33+230dup	NP_001245137.1:n.33+227_33+230dup
NM_001258209.2:c.-19+136_-19+139dup	NP_001245138.1:n.-19+136_-19+139dup