Canonical Allele Identifier: CA2429869001
Gene: HUWE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53534327_53534328delinsGC , CM000685.2:g.53534327_53534328delinsGC GRCh38
NC_000023.10:g.53561288_53561289delinsGC , CM000685.1:g.53561288_53561289delinsGC GRCh37
NC_000023.9:g.53578013_53578014delinsGC NCBI36
NG_016261.2:g.157406_157407delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000704099.1:c.12616-131_12616-130delinsGC ENSP00000515693.1:n.12616-131_12616-130delinsGC
ENST00000262854.11:c.12832-131_12832-130delinsGC MANE Select ENSP00000262854.6:n.12832-131_12832-130delinsGC
ENST00000262854.10:c.12832-131_12832-130delinsGC ENSP00000262854.6:n.12832-131_12832-130delinsGC
ENST00000342160.7:c.12832-131_12832-130delinsGC ENSP00000340648.3:n.12832-131_12832-130delinsGC
ENST00000426907.5:c.3299-131_3299-130delinsGC
ENST00000488459.1:n.145-131_145-130delinsGC
ENST00000612484.4:c.12805-131_12805-130delinsGC ENSP00000479451.1:n.12805-131_12805-130delinsGC
NM_031407.6:c.12832-131_12832-130delinsGC NP_113584.3:n.12832-131_12832-130delinsGC
XM_005261965.2:c.12832-131_12832-130delinsGC XP_005262022.1:n.12832-131_12832-130delinsGC
XM_011530746.1:c.13081-131_13081-130delinsGC XP_011529048.1:n.13081-131_13081-130delinsGC
XM_011530747.1:c.13081-131_13081-130delinsGC XP_011529049.1:n.13081-131_13081-130delinsGC
XM_011530748.1:c.13081-131_13081-130delinsGC XP_011529050.1:n.13081-131_13081-130delinsGC
XM_011530749.1:c.13081-131_13081-130delinsGC XP_011529051.1:n.13081-131_13081-130delinsGC
XM_011530750.1:c.13081-131_13081-130delinsGC XP_011529052.1:n.13081-131_13081-130delinsGC
XM_011530751.1:c.13081-131_13081-130delinsGC XP_011529053.1:n.13081-131_13081-130delinsGC
XM_011530752.1:c.13078-131_13078-130delinsGC XP_011529054.1:n.13078-131_13078-130delinsGC
XM_011530753.1:c.13036-131_13036-130delinsGC XP_011529055.1:n.13036-131_13036-130delinsGC
XM_011530754.1:c.13033-131_13033-130delinsGC XP_011529056.1:n.13033-131_13033-130delinsGC
XM_011530755.1:c.13030-131_13030-130delinsGC XP_011529057.1:n.13030-131_13030-130delinsGC
XM_011530756.1:c.12982-131_12982-130delinsGC XP_011529058.1:n.12982-131_12982-130delinsGC
XM_011530757.1:c.12679-131_12679-130delinsGC XP_011529059.1:n.12679-131_12679-130delinsGC
XM_005261965.4:c.12832-131_12832-130delinsGC XP_005262022.1:n.12832-131_12832-130delinsGC
XM_011530751.2:c.13081-131_13081-130delinsGC XP_011529053.1:n.13081-131_13081-130delinsGC
XM_017029191.1:c.13213-131_13213-130delinsGC XP_016884680.1:n.13213-131_13213-130delinsGC
XM_017029192.1:c.13210-131_13210-130delinsGC XP_016884681.1:n.13210-131_13210-130delinsGC
XM_017029193.1:c.13192-131_13192-130delinsGC XP_016884682.1:n.13192-131_13192-130delinsGC
XM_017029194.1:c.13168-131_13168-130delinsGC XP_016884683.1:n.13168-131_13168-130delinsGC
XM_017029195.1:c.13165-131_13165-130delinsGC XP_016884684.1:n.13165-131_13165-130delinsGC
XM_017029196.1:c.13162-131_13162-130delinsGC XP_016884685.1:n.13162-131_13162-130delinsGC
XM_017029197.1:c.13114-131_13114-130delinsGC XP_016884686.1:n.13114-131_13114-130delinsGC
XM_017029198.2:c.13102-131_13102-130delinsGC XP_016884687.1:n.13102-131_13102-130delinsGC
XM_017029199.1:c.13102-131_13102-130delinsGC XP_016884688.1:n.13102-131_13102-130delinsGC
XM_017029200.1:c.13102-131_13102-130delinsGC XP_016884689.1:n.13102-131_13102-130delinsGC
XM_017029201.1:c.13102-131_13102-130delinsGC XP_016884690.1:n.13102-131_13102-130delinsGC
XM_017029202.1:c.13102-131_13102-130delinsGC XP_016884691.1:n.13102-131_13102-130delinsGC
XM_017029203.1:c.13102-131_13102-130delinsGC XP_016884692.1:n.13102-131_13102-130delinsGC
XM_017029204.1:c.12964-131_12964-130delinsGC XP_016884693.1:n.12964-131_12964-130delinsGC
XM_017029206.1:c.12811-131_12811-130delinsGC XP_016884695.1:n.12811-131_12811-130delinsGC
XM_024452322.1:c.13081-131_13081-130delinsGC XP_024308090.1:n.13081-131_13081-130delinsGC
NM_031407.7:c.12832-131_12832-130delinsGC MANE Select NP_113584.3:n.12832-131_12832-130delinsGC