Canonical Allele Identifier: CA2557723699

Gene: HUWE1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534534del , CM000685.2:g.53534534del	GRCh38
NC_000023.10:g.53561495del , CM000685.1:g.53561495del	GRCh37
NC_000023.9:g.53578220del	NCBI36
NG_016261.2:g.157201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12598del	ENSP00000515693.1:p.Gln4200SerfsTer?
ENST00000262854.11:c.12814del MANE Select	ENSP00000262854.6:p.Gln4272SerfsTer?
ENST00000262854.10:c.12814del	ENSP00000262854.6:p.Gln4272SerfsTer?
ENST00000342160.7:c.12814del	ENSP00000340648.3:p.Gln4272SerfsTer?
ENST00000426907.5:c.3281del
ENST00000488459.1:n.127del
ENST00000612484.4:c.12787del	ENSP00000479451.1:p.Gln4263SerfsTer?
NM_031407.6:c.12814del	NP_113584.3:p.Gln4272SerfsTer?
XM_005261965.2:c.12814del	XP_005262022.1:p.Gln4272SerfsTer?
XM_011530746.1:c.13063del	XP_011529048.1:p.Gln4355SerfsTer?
XM_011530747.1:c.13063del	XP_011529049.1:p.Gln4355SerfsTer?
XM_011530748.1:c.13063del	XP_011529050.1:p.Gln4355SerfsTer?
XM_011530749.1:c.13063del	XP_011529051.1:p.Gln4355SerfsTer?
XM_011530750.1:c.13063del	XP_011529052.1:p.Gln4355SerfsTer?
XM_011530751.1:c.13063del	XP_011529053.1:p.Gln4355SerfsTer?
XM_011530752.1:c.13060del	XP_011529054.1:p.Gln4354SerfsTer?
XM_011530753.1:c.13018del	XP_011529055.1:p.Gln4340SerfsTer?
XM_011530754.1:c.13015del	XP_011529056.1:p.Gln4339SerfsTer?
XM_011530755.1:c.13012del	XP_011529057.1:p.Gln4338SerfsTer?
XM_011530756.1:c.12964del	XP_011529058.1:p.Gln4322SerfsTer?
XM_011530757.1:c.12661del	XP_011529059.1:p.Gln4221SerfsTer?
XM_005261965.4:c.12814del	XP_005262022.1:p.Gln4272SerfsTer?
XM_011530751.2:c.13063del	XP_011529053.1:p.Gln4355SerfsTer?
XM_017029191.1:c.13195del	XP_016884680.1:p.Gln4399SerfsTer?
XM_017029192.1:c.13192del	XP_016884681.1:p.Gln4398SerfsTer?
XM_017029193.1:c.13174del	XP_016884682.1:p.Gln4392SerfsTer?
XM_017029194.1:c.13150del	XP_016884683.1:p.Gln4384SerfsTer?
XM_017029195.1:c.13147del	XP_016884684.1:p.Gln4383SerfsTer?
XM_017029196.1:c.13144del	XP_016884685.1:p.Gln4382SerfsTer?
XM_017029197.1:c.13096del	XP_016884686.1:p.Gln4366SerfsTer?
XM_017029198.2:c.13084del	XP_016884687.1:p.Gln4362SerfsTer?
XM_017029199.1:c.13084del	XP_016884688.1:p.Gln4362SerfsTer?
XM_017029200.1:c.13084del	XP_016884689.1:p.Gln4362SerfsTer?
XM_017029201.1:c.13084del	XP_016884690.1:p.Gln4362SerfsTer?
XM_017029202.1:c.13084del	XP_016884691.1:p.Gln4362SerfsTer?
XM_017029203.1:c.13084del	XP_016884692.1:p.Gln4362SerfsTer?
XM_017029204.1:c.12946del	XP_016884693.1:p.Gln4316SerfsTer?
XM_017029206.1:c.12793del	XP_016884695.1:p.Gln4265SerfsTer?
XM_024452322.1:c.13063del	XP_024308090.1:p.Gln4355SerfsTer?
NM_031407.7:c.12814del MANE Select	NP_113584.3:p.Gln4272SerfsTer?