Canonical Allele Identifier: CA2429868846

Gene: HUWE1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53533929_53533941delinsTTGGGTAGGGTCC , CM000685.2:g.53533929_53533941delinsTTGGGTAGGGTCC	GRCh38
NC_000023.10:g.53560890_53560902delinsTTGGGTAGGGTCC , CM000685.1:g.53560890_53560902delinsTTGGGTAGGGTCC	GRCh37
NC_000023.9:g.53577615_53577627delinsTTGGGTAGGGTCC	NCBI36
NG_016261.2:g.157793_157805delinsGGACCCTACCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12806+66_12806+78delinsGGACCCTACCCAA	ENSP00000515693.1:n.12806+66_12806+78delinsGGACCCTACCCAA
ENST00000262854.11:c.13022+66_13022+78delinsGGACCCTACCCAA MANE Select	ENSP00000262854.6:n.13022+66_13022+78delinsGGACCCTACCCAA
ENST00000262854.10:c.13022+66_13022+78delinsGGACCCTACCCAA	ENSP00000262854.6:n.13022+66_13022+78delinsGGACCCTACCCAA
ENST00000342160.7:c.13022+66_13022+78delinsGGACCCTACCCAA	ENSP00000340648.3:n.13022+66_13022+78delinsGGACCCTACCCAA
ENST00000426907.5:c.3489+66_3489+78delinsGGACCCTACCCAA
ENST00000488459.1:n.401_413delinsGGACCCTACCCAA
ENST00000612484.4:c.12995+66_12995+78delinsGGACCCTACCCAA	ENSP00000479451.1:n.12995+66_12995+78delinsGGACCCTACCCAA
NM_031407.6:c.13022+66_13022+78delinsGGACCCTACCCAA	NP_113584.3:n.13022+66_13022+78delinsGGACCCTACCCAA
XM_005261965.2:c.13022+66_13022+78delinsGGACCCTACCCAA	XP_005262022.1:n.13022+66_13022+78delinsGGACCCTACCCAA
XM_011530746.1:c.13271+66_13271+78delinsGGACCCTACCCAA	XP_011529048.1:n.13271+66_13271+78delinsGGACCCTACCCAA
XM_011530747.1:c.13271+66_13271+78delinsGGACCCTACCCAA	XP_011529049.1:n.13271+66_13271+78delinsGGACCCTACCCAA
XM_011530748.1:c.13271+66_13271+78delinsGGACCCTACCCAA	XP_011529050.1:n.13271+66_13271+78delinsGGACCCTACCCAA
XM_011530749.1:c.13271+66_13271+78delinsGGACCCTACCCAA	XP_011529051.1:n.13271+66_13271+78delinsGGACCCTACCCAA
XM_011530750.1:c.13271+66_13271+78delinsGGACCCTACCCAA	XP_011529052.1:n.13271+66_13271+78delinsGGACCCTACCCAA
XM_011530751.1:c.13271+66_13271+78delinsGGACCCTACCCAA	XP_011529053.1:n.13271+66_13271+78delinsGGACCCTACCCAA
XM_011530752.1:c.13268+66_13268+78delinsGGACCCTACCCAA	XP_011529054.1:n.13268+66_13268+78delinsGGACCCTACCCAA
XM_011530753.1:c.13226+66_13226+78delinsGGACCCTACCCAA	XP_011529055.1:n.13226+66_13226+78delinsGGACCCTACCCAA
XM_011530754.1:c.13223+66_13223+78delinsGGACCCTACCCAA	XP_011529056.1:n.13223+66_13223+78delinsGGACCCTACCCAA
XM_011530755.1:c.13220+66_13220+78delinsGGACCCTACCCAA	XP_011529057.1:n.13220+66_13220+78delinsGGACCCTACCCAA
XM_011530756.1:c.13172+66_13172+78delinsGGACCCTACCCAA	XP_011529058.1:n.13172+66_13172+78delinsGGACCCTACCCAA
XM_011530757.1:c.12869+66_12869+78delinsGGACCCTACCCAA	XP_011529059.1:n.12869+66_12869+78delinsGGACCCTACCCAA
XM_005261965.4:c.13022+66_13022+78delinsGGACCCTACCCAA	XP_005262022.1:n.13022+66_13022+78delinsGGACCCTACCCAA
XM_011530751.2:c.13271+66_13271+78delinsGGACCCTACCCAA	XP_011529053.1:n.13271+66_13271+78delinsGGACCCTACCCAA
XM_017029191.1:c.13403+66_13403+78delinsGGACCCTACCCAA	XP_016884680.1:n.13403+66_13403+78delinsGGACCCTACCCAA
XM_017029192.1:c.13400+66_13400+78delinsGGACCCTACCCAA	XP_016884681.1:n.13400+66_13400+78delinsGGACCCTACCCAA
XM_017029193.1:c.13382+66_13382+78delinsGGACCCTACCCAA	XP_016884682.1:n.13382+66_13382+78delinsGGACCCTACCCAA
XM_017029194.1:c.13358+66_13358+78delinsGGACCCTACCCAA	XP_016884683.1:n.13358+66_13358+78delinsGGACCCTACCCAA
XM_017029195.1:c.13355+66_13355+78delinsGGACCCTACCCAA	XP_016884684.1:n.13355+66_13355+78delinsGGACCCTACCCAA
XM_017029196.1:c.13352+66_13352+78delinsGGACCCTACCCAA	XP_016884685.1:n.13352+66_13352+78delinsGGACCCTACCCAA
XM_017029197.1:c.13304+66_13304+78delinsGGACCCTACCCAA	XP_016884686.1:n.13304+66_13304+78delinsGGACCCTACCCAA
XM_017029198.2:c.13292+66_13292+78delinsGGACCCTACCCAA	XP_016884687.1:n.13292+66_13292+78delinsGGACCCTACCCAA
XM_017029199.1:c.13292+66_13292+78delinsGGACCCTACCCAA	XP_016884688.1:n.13292+66_13292+78delinsGGACCCTACCCAA
XM_017029200.1:c.13292+66_13292+78delinsGGACCCTACCCAA	XP_016884689.1:n.13292+66_13292+78delinsGGACCCTACCCAA
XM_017029201.1:c.13292+66_13292+78delinsGGACCCTACCCAA	XP_016884690.1:n.13292+66_13292+78delinsGGACCCTACCCAA
XM_017029202.1:c.13292+66_13292+78delinsGGACCCTACCCAA	XP_016884691.1:n.13292+66_13292+78delinsGGACCCTACCCAA
XM_017029203.1:c.13292+66_13292+78delinsGGACCCTACCCAA	XP_016884692.1:n.13292+66_13292+78delinsGGACCCTACCCAA
XM_017029204.1:c.13154+66_13154+78delinsGGACCCTACCCAA	XP_016884693.1:n.13154+66_13154+78delinsGGACCCTACCCAA
XM_017029206.1:c.13001+66_13001+78delinsGGACCCTACCCAA	XP_016884695.1:n.13001+66_13001+78delinsGGACCCTACCCAA
XM_024452322.1:c.13271+66_13271+78delinsGGACCCTACCCAA	XP_024308090.1:n.13271+66_13271+78delinsGGACCCTACCCAA
NM_031407.7:c.13022+66_13022+78delinsGGACCCTACCCAA MANE Select	NP_113584.3:n.13022+66_13022+78delinsGGACCCTACCCAA