Canonical Allele Identifier: CA229644416

Gene: HMBS

Linked Data

• dbSNP Id: rs371065891
• MyVariant Identifiers: chr11:g.118955775_118955776insG (hg19) ; chr11:g.119085065_119085066insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085067dup , CM000673.2:g.119085067dup	GRCh38
NC_000011.9:g.118955777dup , CM000673.1:g.118955777dup	GRCh37
NC_000011.8:g.118460987dup	NCBI36
NG_008093.1:g.5191dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.33+1dup
ENST00000534956.2:n.36+1dup
ENST00000536813.6:c.-102+1dup
ENST00000546302.6:c.33+1dup
ENST00000640813.1:c.-19+1dup
ENST00000648026.1:c.27+1dup
ENST00000649868.1:c.33+1dup
ENST00000652429.1:c.33+1dup
ENST00000278715.7:c.33+1dup
ENST00000442944.6:c.-102+1dup
ENST00000535793.5:c.33+1dup
ENST00000536185.5:n.201+1dup
ENST00000536813.5:c.33+1dup
ENST00000537841.5:c.-109dup	ENSP00000444730.1:n.-109dup
ENST00000542044.5:n.158+1dup
ENST00000542729.5:c.-109dup	ENSP00000443058.1:n.-109dup
ENST00000542822.5:c.34dup	ENSP00000444817.1:p.Val12GlyfsTer4
ENST00000543090.5:c.33+1dup
ENST00000543821.5:n.179+1dup
ENST00000544387.5:c.33+1dup
ENST00000545621.5:c.33+1dup
ENST00000545901.5:n.186+1dup
ENST00000546302.5:c.33+1dup
NM_000190.3:c.33+1dup
NM_001258208.1:c.33+1dup
NM_001258209.1:c.-109dup	NP_001245138.1:n.-109dup
XM_005271531.1:c.-109dup	XP_005271588.1:n.-109dup
XM_005271532.1:c.-85dup	XP_005271589.1:n.-85dup
XM_005271533.2:c.33+1dup
NM_000190.4:c.33+1dup
XM_005271533.3:c.33+1dup
XM_024448460.1:c.33+1dup
NM_001258208.2:c.33+1dup
NM_001258209.2:c.-109dup	NP_001245138.1:n.-109dup