Canonical Allele Identifier: CA2429870488
Gene: HUWE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53537746_53537750delinsATTTG , CM000685.2:g.53537746_53537750delinsATTTG GRCh38
NC_000023.10:g.53564707_53564711delinsATTTG , CM000685.1:g.53564707_53564711delinsATTTG GRCh37
NC_000023.9:g.53581432_53581436delinsATTTG NCBI36
NG_016261.2:g.153984_153988delinsCAAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000704099.1:c.11781-54_11781-50delinsCAAAT ENSP00000515693.1:n.11781-54_11781-50delinsCAAAT
ENST00000262854.11:c.11997-54_11997-50delinsCAAAT MANE Select ENSP00000262854.6:n.11997-54_11997-50delinsCAAAT
ENST00000262854.10:c.11997-54_11997-50delinsCAAAT ENSP00000262854.6:n.11997-54_11997-50delinsCAAAT
ENST00000342160.7:c.11997-54_11997-50delinsCAAAT ENSP00000340648.3:n.11997-54_11997-50delinsCAAAT
ENST00000426907.5:c.2464-54_2464-50delinsCAAAT
ENST00000480438.1:n.132-54_132-50delinsCAAAT
ENST00000612484.4:c.11970-54_11970-50delinsCAAAT ENSP00000479451.1:n.11970-54_11970-50delinsCAAAT
NM_031407.6:c.11997-54_11997-50delinsCAAAT NP_113584.3:n.11997-54_11997-50delinsCAAAT
XM_005261965.2:c.11997-54_11997-50delinsCAAAT XP_005262022.1:n.11997-54_11997-50delinsCAAAT
XM_011530746.1:c.12246-54_12246-50delinsCAAAT XP_011529048.1:n.12246-54_12246-50delinsCAAAT
XM_011530747.1:c.12246-54_12246-50delinsCAAAT XP_011529049.1:n.12246-54_12246-50delinsCAAAT
XM_011530748.1:c.12246-54_12246-50delinsCAAAT XP_011529050.1:n.12246-54_12246-50delinsCAAAT
XM_011530749.1:c.12246-54_12246-50delinsCAAAT XP_011529051.1:n.12246-54_12246-50delinsCAAAT
XM_011530750.1:c.12246-54_12246-50delinsCAAAT XP_011529052.1:n.12246-54_12246-50delinsCAAAT
XM_011530751.1:c.12246-54_12246-50delinsCAAAT XP_011529053.1:n.12246-54_12246-50delinsCAAAT
XM_011530752.1:c.12243-54_12243-50delinsCAAAT XP_011529054.1:n.12243-54_12243-50delinsCAAAT
XM_011530753.1:c.12201-54_12201-50delinsCAAAT XP_011529055.1:n.12201-54_12201-50delinsCAAAT
XM_011530754.1:c.12198-54_12198-50delinsCAAAT XP_011529056.1:n.12198-54_12198-50delinsCAAAT
XM_011530755.1:c.12195-54_12195-50delinsCAAAT XP_011529057.1:n.12195-54_12195-50delinsCAAAT
XM_011530756.1:c.12147-54_12147-50delinsCAAAT XP_011529058.1:n.12147-54_12147-50delinsCAAAT
XM_011530757.1:c.11844-54_11844-50delinsCAAAT XP_011529059.1:n.11844-54_11844-50delinsCAAAT
XM_005261965.4:c.11997-54_11997-50delinsCAAAT XP_005262022.1:n.11997-54_11997-50delinsCAAAT
XM_011530751.2:c.12246-54_12246-50delinsCAAAT XP_011529053.1:n.12246-54_12246-50delinsCAAAT
XM_017029191.1:c.12378-54_12378-50delinsCAAAT XP_016884680.1:n.12378-54_12378-50delinsCAAAT
XM_017029192.1:c.12375-54_12375-50delinsCAAAT XP_016884681.1:n.12375-54_12375-50delinsCAAAT
XM_017029193.1:c.12357-54_12357-50delinsCAAAT XP_016884682.1:n.12357-54_12357-50delinsCAAAT
XM_017029194.1:c.12333-54_12333-50delinsCAAAT XP_016884683.1:n.12333-54_12333-50delinsCAAAT
XM_017029195.1:c.12330-54_12330-50delinsCAAAT XP_016884684.1:n.12330-54_12330-50delinsCAAAT
XM_017029196.1:c.12327-54_12327-50delinsCAAAT XP_016884685.1:n.12327-54_12327-50delinsCAAAT
XM_017029197.1:c.12279-54_12279-50delinsCAAAT XP_016884686.1:n.12279-54_12279-50delinsCAAAT
XM_017029198.2:c.12267-54_12267-50delinsCAAAT XP_016884687.1:n.12267-54_12267-50delinsCAAAT
XM_017029199.1:c.12267-54_12267-50delinsCAAAT XP_016884688.1:n.12267-54_12267-50delinsCAAAT
XM_017029200.1:c.12267-54_12267-50delinsCAAAT XP_016884689.1:n.12267-54_12267-50delinsCAAAT
XM_017029201.1:c.12267-54_12267-50delinsCAAAT XP_016884690.1:n.12267-54_12267-50delinsCAAAT
XM_017029202.1:c.12267-54_12267-50delinsCAAAT XP_016884691.1:n.12267-54_12267-50delinsCAAAT
XM_017029203.1:c.12267-54_12267-50delinsCAAAT XP_016884692.1:n.12267-54_12267-50delinsCAAAT
XM_017029204.1:c.12129-54_12129-50delinsCAAAT XP_016884693.1:n.12129-54_12129-50delinsCAAAT
XM_017029206.1:c.11976-54_11976-50delinsCAAAT XP_016884695.1:n.11976-54_11976-50delinsCAAAT
XM_024452322.1:c.12246-54_12246-50delinsCAAAT XP_024308090.1:n.12246-54_12246-50delinsCAAAT
NM_031407.7:c.11997-54_11997-50delinsCAAAT MANE Select NP_113584.3:n.11997-54_11997-50delinsCAAAT