Canonical Allele Identifier: CA2575084600

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085057_119085059dup , CM000673.2:g.119085057_119085059dup	GRCh38
NC_000011.9:g.118955767_118955769dup , CM000673.1:g.118955767_118955769dup	GRCh37
NC_000011.8:g.118460977_118460979dup	NCBI36
NG_008093.1:g.5181_5183dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.24_26dup	ENSP00000392041.3:p.Ala9_Thr10insAla
ENST00000534956.2:n.27_29dup
ENST00000536813.6:c.-111_-109dup	ENSP00000438726.2:n.-111_-109dup
ENST00000546302.6:c.24_26dup	ENSP00000445599.1:p.Ala9_Thr10insAla
ENST00000640813.1:c.-28_-26dup	ENSP00000491061.1:n.-28_-26dup
ENST00000648026.1:c.18_20dup	ENSP00000498044.1:p.Ala7_Thr8insAla
ENST00000649868.1:c.24_26dup	ENSP00000497548.1:p.Ala9_Thr10insAla
ENST00000652429.1:c.24_26dup MANE Select	ENSP00000498786.1:p.Ala9_Thr10insAla
ENST00000278715.7:c.24_26dup	ENSP00000278715.3:p.Ala9_Thr10insAla
ENST00000442944.6:c.-111_-109dup	ENSP00000392041.2:n.-111_-109dup
ENST00000535793.5:c.24_26dup	ENSP00000439904.1:p.Ala9_Thr10insAla
ENST00000536185.5:n.192_194dup
ENST00000536813.5:c.24_26dup	ENSP00000438726.1:p.Ala9_Thr10insAla
ENST00000537841.5:c.-119_-117dup	ENSP00000444730.1:n.-119_-117dup
ENST00000542044.5:n.149_151dup
ENST00000542729.5:c.-119_-117dup	ENSP00000443058.1:n.-119_-117dup
ENST00000542822.5:c.24_26dup	ENSP00000444817.1:p.Ala9_Thr10insAla
ENST00000543090.5:c.24_26dup	ENSP00000445429.1:p.Ala9_Thr10insAla
ENST00000543821.5:n.170_172dup
ENST00000544387.5:c.24_26dup	ENSP00000438424.1:p.Ala9_Thr10insAla
ENST00000545621.5:c.24_26dup	ENSP00000444849.1:p.Ala9_Thr10insAla
ENST00000545901.5:n.177_179dup
ENST00000546302.5:c.24_26dup	ENSP00000445599.1:p.Ala9_Thr10insAla
NM_000190.3:c.24_26dup	NP_000181.2:p.Ala9_Thr10insAla
NM_001258208.1:c.24_26dup	NP_001245137.1:p.Ala9_Thr10insAla
NM_001258209.1:c.-119_-117dup	NP_001245138.1:n.-119_-117dup
XM_005271531.1:c.-119_-117dup	XP_005271588.1:n.-119_-117dup
XM_005271532.1:c.-95_-93dup	XP_005271589.1:n.-95_-93dup
XM_005271533.2:c.24_26dup	XP_005271590.1:p.Ala9_Thr10insAla
NM_000190.4:c.24_26dup MANE Select	NP_000181.2:p.Ala9_Thr10insAla
XM_005271533.3:c.24_26dup	XP_005271590.1:p.Ala9_Thr10insAla
XM_024448460.1:c.24_26dup	XP_024304228.1:p.Ala9_Thr10insAla
NM_001258208.2:c.24_26dup	NP_001245137.1:p.Ala9_Thr10insAla
NM_001258209.2:c.-119_-117dup	NP_001245138.1:n.-119_-117dup