Canonical Allele Identifier: CA2575084591

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084982_119084983insAA , CM000673.2:g.119084982_119084983insAA	GRCh38
NC_000011.9:g.118955692_118955693insAA , CM000673.1:g.118955692_118955693insAA	GRCh37
NC_000011.8:g.118460902_118460903insAA	NCBI36
NG_008093.1:g.5106_5107insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.-52_-51insAA	ENSP00000392041.3:n.-52_-51insAA
ENST00000536813.6:c.-186_-185insAA	ENSP00000438726.2:n.-186_-185insAA
ENST00000546302.6:c.-52_-51insAA	ENSP00000445599.1:n.-52_-51insAA
ENST00000640813.1:c.-103_-102insAA	ENSP00000491061.1:n.-103_-102insAA
ENST00000652429.1:c.-52_-51insAA MANE Select	ENSP00000498786.1:n.-52_-51insAA
ENST00000278715.7:c.-52_-51insAA	ENSP00000278715.3:n.-52_-51insAA
ENST00000442944.6:c.-186_-185insAA	ENSP00000392041.2:n.-186_-185insAA
ENST00000535793.5:c.-52_-51insAA	ENSP00000439904.1:n.-52_-51insAA
ENST00000536185.5:n.117_118insAA
ENST00000536813.5:c.-52_-51insAA	ENSP00000438726.1:n.-52_-51insAA
ENST00000537841.5:c.-194_-193insAA	ENSP00000444730.1:n.-194_-193insAA
ENST00000542044.5:n.74_75insAA
ENST00000542729.5:c.-194_-193insAA	ENSP00000443058.1:n.-194_-193insAA
ENST00000542822.5:c.-52_-51insAA	ENSP00000444817.1:n.-52_-51insAA
ENST00000543090.5:c.-52_-51insAA	ENSP00000445429.1:n.-52_-51insAA
ENST00000543821.5:n.95_96insAA
ENST00000544387.5:c.-52_-51insAA	ENSP00000438424.1:n.-52_-51insAA
ENST00000545621.5:c.-52_-51insAA	ENSP00000444849.1:n.-52_-51insAA
ENST00000545901.5:n.102_103insAA
ENST00000546302.5:c.-52_-51insAA	ENSP00000445599.1:n.-52_-51insAA
NM_000190.3:c.-52_-51insAA	NP_000181.2:n.-52_-51insAA
NM_001258208.1:c.-52_-51insAA	NP_001245137.1:n.-52_-51insAA
NM_001258209.1:c.-194_-193insAA	NP_001245138.1:n.-194_-193insAA
XM_005271531.1:c.-194_-193insAA	XP_005271588.1:n.-194_-193insAA
XM_005271532.1:c.-170_-169insAA	XP_005271589.1:n.-170_-169insAA
XM_005271533.2:c.-52_-51insAA	XP_005271590.1:n.-52_-51insAA
NM_000190.4:c.-52_-51insAA MANE Select	NP_000181.2:n.-52_-51insAA
XM_005271533.3:c.-52_-51insAA	XP_005271590.1:n.-52_-51insAA
XM_024448460.1:c.-52_-51insAA	XP_024304228.1:n.-52_-51insAA
NM_001258208.2:c.-52_-51insAA	NP_001245137.1:n.-52_-51insAA
NM_001258209.2:c.-194_-193insAA	NP_001245138.1:n.-194_-193insAA