Canonical Allele Identifier: CA2429869087
Gene: HUWE1 HGNC NCBI

Linked Data

dbSNP Id: rs2060917919

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53534494_53534496del , CM000685.2:g.53534494_53534496del GRCh38
NC_000023.10:g.53561455_53561457del , CM000685.1:g.53561455_53561457del GRCh37
NC_000023.9:g.53578180_53578182del NCBI36
NG_016261.2:g.157242_157244del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704099.1:c.12615+24_12615+26del ENSP00000515693.1:n.12615+24_12615+26del
ENST00000262854.11:c.12831+24_12831+26del MANE Select ENSP00000262854.6:n.12831+24_12831+26del
ENST00000262854.10:c.12831+24_12831+26del ENSP00000262854.6:n.12831+24_12831+26del
ENST00000342160.7:c.12831+24_12831+26del ENSP00000340648.3:n.12831+24_12831+26del
ENST00000426907.5:c.3298+24_3298+26del
ENST00000488459.1:n.144+24_144+26del
ENST00000612484.4:c.12804+24_12804+26del ENSP00000479451.1:n.12804+24_12804+26del
NM_031407.6:c.12831+24_12831+26del NP_113584.3:n.12831+24_12831+26del
XM_005261965.2:c.12831+24_12831+26del XP_005262022.1:n.12831+24_12831+26del
XM_011530746.1:c.13080+24_13080+26del XP_011529048.1:n.13080+24_13080+26del
XM_011530747.1:c.13080+24_13080+26del XP_011529049.1:n.13080+24_13080+26del
XM_011530748.1:c.13080+24_13080+26del XP_011529050.1:n.13080+24_13080+26del
XM_011530749.1:c.13080+24_13080+26del XP_011529051.1:n.13080+24_13080+26del
XM_011530750.1:c.13080+24_13080+26del XP_011529052.1:n.13080+24_13080+26del
XM_011530751.1:c.13080+24_13080+26del XP_011529053.1:n.13080+24_13080+26del
XM_011530752.1:c.13077+24_13077+26del XP_011529054.1:n.13077+24_13077+26del
XM_011530753.1:c.13035+24_13035+26del XP_011529055.1:n.13035+24_13035+26del
XM_011530754.1:c.13032+24_13032+26del XP_011529056.1:n.13032+24_13032+26del
XM_011530755.1:c.13029+24_13029+26del XP_011529057.1:n.13029+24_13029+26del
XM_011530756.1:c.12981+24_12981+26del XP_011529058.1:n.12981+24_12981+26del
XM_011530757.1:c.12678+24_12678+26del XP_011529059.1:n.12678+24_12678+26del
XM_005261965.4:c.12831+24_12831+26del XP_005262022.1:n.12831+24_12831+26del
XM_011530751.2:c.13080+24_13080+26del XP_011529053.1:n.13080+24_13080+26del
XM_017029191.1:c.13212+24_13212+26del XP_016884680.1:n.13212+24_13212+26del
XM_017029192.1:c.13209+24_13209+26del XP_016884681.1:n.13209+24_13209+26del
XM_017029193.1:c.13191+24_13191+26del XP_016884682.1:n.13191+24_13191+26del
XM_017029194.1:c.13167+24_13167+26del XP_016884683.1:n.13167+24_13167+26del
XM_017029195.1:c.13164+24_13164+26del XP_016884684.1:n.13164+24_13164+26del
XM_017029196.1:c.13161+24_13161+26del XP_016884685.1:n.13161+24_13161+26del
XM_017029197.1:c.13113+24_13113+26del XP_016884686.1:n.13113+24_13113+26del
XM_017029198.2:c.13101+24_13101+26del XP_016884687.1:n.13101+24_13101+26del
XM_017029199.1:c.13101+24_13101+26del XP_016884688.1:n.13101+24_13101+26del
XM_017029200.1:c.13101+24_13101+26del XP_016884689.1:n.13101+24_13101+26del
XM_017029201.1:c.13101+24_13101+26del XP_016884690.1:n.13101+24_13101+26del
XM_017029202.1:c.13101+24_13101+26del XP_016884691.1:n.13101+24_13101+26del
XM_017029203.1:c.13101+24_13101+26del XP_016884692.1:n.13101+24_13101+26del
XM_017029204.1:c.12963+24_12963+26del XP_016884693.1:n.12963+24_12963+26del
XM_017029206.1:c.12810+24_12810+26del XP_016884695.1:n.12810+24_12810+26del
XM_024452322.1:c.13080+24_13080+26del XP_024308090.1:n.13080+24_13080+26del
NM_031407.7:c.12831+24_12831+26del MANE Select NP_113584.3:n.12831+24_12831+26del