Canonical Allele Identifier: CA2738600963
Gene: HUWE1 HGNC NCBI

Linked Data

dbSNP Id: rs2146749270

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53534200_53534201insAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGA , CM000685.2:g.53534200_53534201insAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGA GRCh38
NC_000023.10:g.53561161_53561162insAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGA , CM000685.1:g.53561161_53561162insAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGA GRCh37
NC_000023.9:g.53577886_53577887insAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGA NCBI36
NG_016261.2:g.157533_157534insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT

Transcript Alleles

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