Canonical Allele Identifier: CA229644804

Gene: HMBS

Linked Data

• dbSNP Id: rs915678391
• MyVariant Identifiers: chr11:g.118955985_118955986insA (hg19) ; chr11:g.119085275_119085276insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085276dup , CM000673.2:g.119085276dup	GRCh38
NC_000011.9:g.118955986dup , CM000673.1:g.118955986dup	GRCh37
NC_000011.8:g.118461196dup	NCBI36
NG_008093.1:g.5400dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-696dup	ENSP00000509288.1:n.-696dup
ENST00000691249.1:n.54dup
ENST00000442944.7:c.33+210dup	ENSP00000392041.3:n.33+210dup
ENST00000534956.2:n.36+210dup
ENST00000536813.6:c.-102+210dup	ENSP00000438726.2:n.-102+210dup
ENST00000546302.6:c.33+210dup	ENSP00000445599.1:n.33+210dup
ENST00000640813.1:c.-19+210dup	ENSP00000491061.1:n.-19+210dup
ENST00000648026.1:c.27+210dup	ENSP00000498044.1:n.27+210dup
ENST00000649868.1:c.33+210dup	ENSP00000497548.1:n.33+210dup
ENST00000650101.1:c.-636dup	ENSP00000496970.1:n.-636dup
ENST00000650307.1:n.33dup
ENST00000652429.1:c.33+210dup MANE Select	ENSP00000498786.1:n.33+210dup
ENST00000278715.7:c.33+210dup	ENSP00000278715.3:n.33+210dup
ENST00000442944.6:c.-102+210dup	ENSP00000392041.2:n.-102+210dup
ENST00000535793.5:c.33+210dup	ENSP00000439904.1:n.33+210dup
ENST00000536185.5:n.201+210dup
ENST00000536813.5:c.33+210dup	ENSP00000438726.1:n.33+210dup
ENST00000537841.5:c.-19+119dup	ENSP00000444730.1:n.-19+119dup
ENST00000542044.5:n.158+210dup
ENST00000542729.5:c.-19+119dup	ENSP00000443058.1:n.-19+119dup
ENST00000542822.5:c.124+119dup	ENSP00000444817.1:n.124+119dup
ENST00000543090.5:c.33+210dup	ENSP00000445429.1:n.33+210dup
ENST00000543821.5:n.179+210dup
ENST00000544387.5:c.33+210dup	ENSP00000438424.1:n.33+210dup
ENST00000545621.5:c.33+210dup	ENSP00000444849.1:n.33+210dup
ENST00000545901.5:n.186+210dup
ENST00000546302.5:c.33+210dup	ENSP00000445599.1:n.33+210dup
NM_000190.3:c.33+210dup	NP_000181.2:n.33+210dup
NM_001258208.1:c.33+210dup	NP_001245137.1:n.33+210dup
NM_001258209.1:c.-19+119dup	NP_001245138.1:n.-19+119dup
XM_005271531.1:c.-19+119dup	XP_005271588.1:n.-19+119dup
XM_005271532.1:c.-19+143dup	XP_005271589.1:n.-19+143dup
XM_005271533.2:c.33+210dup	XP_005271590.1:n.33+210dup
NM_000190.4:c.33+210dup MANE Select	NP_000181.2:n.33+210dup
XM_005271533.3:c.33+210dup	XP_005271590.1:n.33+210dup
XM_024448460.1:c.33+210dup	XP_024304228.1:n.33+210dup
NM_001258208.2:c.33+210dup	NP_001245137.1:n.33+210dup
NM_001258209.2:c.-19+119dup	NP_001245138.1:n.-19+119dup