Canonical Allele Identifier: CA2793833251

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085292_119085293insTCACCC , CM000673.2:g.119085292_119085293insTCACCC	GRCh38
NC_000011.9:g.118956002_118956003insTCACCC , CM000673.1:g.118956002_118956003insTCACCC	GRCh37
NC_000011.8:g.118461212_118461213insTCACCC	NCBI36
NG_008093.1:g.5416_5417insTCACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-680_-679insTCACCC	ENSP00000509288.1:n.-680_-679insTCACCC
ENST00000691249.1:n.70_71insTCACCC
ENST00000442944.7:c.33+226_33+227insTCACCC	ENSP00000392041.3:n.33+226_33+227insTCACCC
ENST00000534956.2:n.36+226_36+227insTCACCC
ENST00000536813.6:c.-102+226_-102+227insTCACCC	ENSP00000438726.2:n.-102+226_-102+227insTCACCC
ENST00000546302.6:c.33+226_33+227insTCACCC	ENSP00000445599.1:n.33+226_33+227insTCACCC
ENST00000640813.1:c.-19+226_-19+227insTCACCC	ENSP00000491061.1:n.-19+226_-19+227insTCACCC
ENST00000648026.1:c.27+226_27+227insTCACCC	ENSP00000498044.1:n.27+226_27+227insTCACCC
ENST00000649823.1:n.3_4insTCACCC
ENST00000649868.1:c.33+226_33+227insTCACCC	ENSP00000497548.1:n.33+226_33+227insTCACCC
ENST00000650101.1:c.-620_-619insTCACCC	ENSP00000496970.1:n.-620_-619insTCACCC
ENST00000650307.1:n.49_50insTCACCC
ENST00000652429.1:c.33+226_33+227insTCACCC MANE Select	ENSP00000498786.1:n.33+226_33+227insTCACCC
ENST00000278715.7:c.33+226_33+227insTCACCC	ENSP00000278715.3:n.33+226_33+227insTCACCC
ENST00000442944.6:c.-102+226_-102+227insTCACCC	ENSP00000392041.2:n.-102+226_-102+227insTCACCC
ENST00000535793.5:c.33+226_33+227insTCACCC	ENSP00000439904.1:n.33+226_33+227insTCACCC
ENST00000536185.5:n.201+226_201+227insTCACCC
ENST00000536813.5:c.33+226_33+227insTCACCC	ENSP00000438726.1:n.33+226_33+227insTCACCC
ENST00000537841.5:c.-19+135_-19+136insTCACCC	ENSP00000444730.1:n.-19+135_-19+136insTCACCC
ENST00000542044.5:n.158+226_158+227insTCACCC
ENST00000542729.5:c.-19+135_-19+136insTCACCC	ENSP00000443058.1:n.-19+135_-19+136insTCACCC
ENST00000542822.5:c.124+135_124+136insTCACCC	ENSP00000444817.1:n.124+135_124+136insTCACCC
ENST00000543090.5:c.33+226_33+227insTCACCC	ENSP00000445429.1:n.33+226_33+227insTCACCC
ENST00000543821.5:n.179+226_179+227insTCACCC
ENST00000544387.5:c.33+226_33+227insTCACCC	ENSP00000438424.1:n.33+226_33+227insTCACCC
ENST00000545621.5:c.33+226_33+227insTCACCC	ENSP00000444849.1:n.33+226_33+227insTCACCC
ENST00000545901.5:n.186+226_186+227insTCACCC
ENST00000546302.5:c.33+226_33+227insTCACCC	ENSP00000445599.1:n.33+226_33+227insTCACCC
NM_000190.3:c.33+226_33+227insTCACCC	NP_000181.2:n.33+226_33+227insTCACCC
NM_001258208.1:c.33+226_33+227insTCACCC	NP_001245137.1:n.33+226_33+227insTCACCC
NM_001258209.1:c.-19+135_-19+136insTCACCC	NP_001245138.1:n.-19+135_-19+136insTCACCC
XM_005271531.1:c.-19+135_-19+136insTCACCC	XP_005271588.1:n.-19+135_-19+136insTCACCC
XM_005271532.1:c.-19+159_-19+160insTCACCC	XP_005271589.1:n.-19+159_-19+160insTCACCC
XM_005271533.2:c.33+226_33+227insTCACCC	XP_005271590.1:n.33+226_33+227insTCACCC
NM_000190.4:c.33+226_33+227insTCACCC MANE Select	NP_000181.2:n.33+226_33+227insTCACCC
XM_005271533.3:c.33+226_33+227insTCACCC	XP_005271590.1:n.33+226_33+227insTCACCC
XM_024448460.1:c.33+226_33+227insTCACCC	XP_024304228.1:n.33+226_33+227insTCACCC
NM_001258208.2:c.33+226_33+227insTCACCC	NP_001245137.1:n.33+226_33+227insTCACCC
NM_001258209.2:c.-19+135_-19+136insTCACCC	NP_001245138.1:n.-19+135_-19+136insTCACCC