Canonical Allele Identifier: CA2695215749

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089717_119089723dup , CM000673.2:g.119089717_119089723dup	GRCh38
NC_000011.9:g.118960427_118960433dup , CM000673.1:g.118960427_118960433dup	GRCh37
NC_000011.8:g.118465637_118465643dup	NCBI36
NG_008093.1:g.9841_9847dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.136_142dup	ENSP00000509288.1:p.Val48AlafsTer21
ENST00000686690.1:n.922_928dup
ENST00000691144.1:n.2042_2048dup
ENST00000691249.1:n.885_891dup
ENST00000442944.7:c.283_289dup	ENSP00000392041.3:p.Val97AlafsTer21
ENST00000534956.2:n.250_256dup
ENST00000536813.6:c.250_256dup	ENSP00000438726.2:p.Val86AlafsTer21
ENST00000546302.6:c.267-273_267-267dup	ENSP00000445599.1:n.267-273_267-267dup
ENST00000640813.1:c.250_256dup	ENSP00000491061.1:p.Val86AlafsTer21
ENST00000648026.1:c.295_301dup	ENSP00000498044.1:p.Val101AlafsTer21
ENST00000648374.1:c.250_256dup	ENSP00000497255.1:p.Val86AlafsTer21
ENST00000648488.1:c.250_256dup	ENSP00000498079.1:p.Val86AlafsTer21
ENST00000649823.1:n.518_524dup
ENST00000649868.1:c.*9_*15dup	ENSP00000497548.1:n.*9_*15dup
ENST00000650101.1:c.232_238dup	ENSP00000496970.1:p.Val80AlafsTer21
ENST00000650307.1:n.1127_1133dup
ENST00000652429.1:c.301_307dup MANE Select	ENSP00000498786.1:p.Val103AlafsTer21
ENST00000278715.7:c.301_307dup	ENSP00000278715.3:p.Val103AlafsTer21
ENST00000392841.1:c.250_256dup	ENSP00000376584.1:p.Val86AlafsTer21
ENST00000442944.6:c.250_256dup	ENSP00000392041.2:p.Val86AlafsTer21
ENST00000534956.1:n.217_223dup
ENST00000535253.5:c.250_256dup	ENSP00000442079.1:p.Val86AlafsTer21
ENST00000535793.5:c.*196_*202dup	ENSP00000439904.1:n.*196_*202dup
ENST00000536185.5:n.419_425dup
ENST00000536813.5:c.283_289dup	ENSP00000438726.1:p.Val97AlafsTer21
ENST00000537841.5:c.250_256dup	ENSP00000444730.1:p.Val86AlafsTer21
ENST00000539986.5:c.250_256dup	ENSP00000440092.1:p.Val86AlafsTer21
ENST00000542044.5:n.746_752dup
ENST00000542345.5:n.439_445dup
ENST00000542729.5:c.250_256dup	ENSP00000443058.1:p.Val86AlafsTer21
ENST00000542822.5:c.*237_*243dup	ENSP00000444817.1:n.*237_*243dup
ENST00000543090.5:c.247_253dup	ENSP00000445429.1:p.Val85AlafsTer21
ENST00000543543.5:n.536_542dup
ENST00000543821.5:n.447_453dup
ENST00000544360.5:n.269_275dup
ENST00000544387.5:c.301_307dup	ENSP00000438424.1:p.Val103AlafsTer21
ENST00000545621.5:c.*196_*202dup	ENSP00000444849.1:n.*196_*202dup
ENST00000546226.5:n.360_366dup
ENST00000546302.5:c.267-273_267-267dup	ENSP00000445599.1:n.267-273_267-267dup
NM_000190.3:c.301_307dup	NP_000181.2:p.Val103AlafsTer21
NM_001024382.1:c.250_256dup	NP_001019553.1:p.Val86AlafsTer21
NM_001258208.1:c.301_307dup	NP_001245137.1:p.Val103AlafsTer21
NM_001258209.1:c.250_256dup	NP_001245138.1:p.Val86AlafsTer21
XM_005271531.1:c.250_256dup	XP_005271588.1:p.Val86AlafsTer21
XM_005271532.1:c.250_256dup	XP_005271589.1:p.Val86AlafsTer21
XM_005271533.2:c.247_253dup	XP_005271590.1:p.Val85AlafsTer21
XM_011542796.1:c.136_142dup	XP_011541098.1:p.Val48AlafsTer21
NM_000190.4:c.301_307dup MANE Select	NP_000181.2:p.Val103AlafsTer21
NM_001024382.2:c.250_256dup	NP_001019553.1:p.Val86AlafsTer21
XM_005271533.3:c.247_253dup	XP_005271590.1:p.Val85AlafsTer21
XM_017017629.1:c.250_256dup	XP_016873118.1:p.Val86AlafsTer21
XM_024448460.1:c.247_253dup	XP_024304228.1:p.Val85AlafsTer21
NM_001258208.2:c.301_307dup	NP_001245137.1:p.Val103AlafsTer21
NM_001258209.2:c.250_256dup	NP_001245138.1:p.Val86AlafsTer21