Canonical Allele Identifier: CA2429869078

Gene: HUWE1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534472_53534473delinsAG , CM000685.2:g.53534472_53534473delinsAG	GRCh38
NC_000023.10:g.53561433_53561434delinsAG , CM000685.1:g.53561433_53561434delinsAG	GRCh37
NC_000023.9:g.53578158_53578159delinsAG	NCBI36
NG_016261.2:g.157261_157262delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12615+43_12615+44delinsCT	ENSP00000515693.1:n.12615+43_12615+44delinsCT
ENST00000262854.11:c.12831+43_12831+44delinsCT MANE Select	ENSP00000262854.6:n.12831+43_12831+44delinsCT
ENST00000262854.10:c.12831+43_12831+44delinsCT	ENSP00000262854.6:n.12831+43_12831+44delinsCT
ENST00000342160.7:c.12831+43_12831+44delinsCT	ENSP00000340648.3:n.12831+43_12831+44delinsCT
ENST00000426907.5:c.3298+43_3298+44delinsCT
ENST00000488459.1:n.144+43_144+44delinsCT
ENST00000612484.4:c.12804+43_12804+44delinsCT	ENSP00000479451.1:n.12804+43_12804+44delinsCT
NM_031407.6:c.12831+43_12831+44delinsCT	NP_113584.3:n.12831+43_12831+44delinsCT
XM_005261965.2:c.12831+43_12831+44delinsCT	XP_005262022.1:n.12831+43_12831+44delinsCT
XM_011530746.1:c.13080+43_13080+44delinsCT	XP_011529048.1:n.13080+43_13080+44delinsCT
XM_011530747.1:c.13080+43_13080+44delinsCT	XP_011529049.1:n.13080+43_13080+44delinsCT
XM_011530748.1:c.13080+43_13080+44delinsCT	XP_011529050.1:n.13080+43_13080+44delinsCT
XM_011530749.1:c.13080+43_13080+44delinsCT	XP_011529051.1:n.13080+43_13080+44delinsCT
XM_011530750.1:c.13080+43_13080+44delinsCT	XP_011529052.1:n.13080+43_13080+44delinsCT
XM_011530751.1:c.13080+43_13080+44delinsCT	XP_011529053.1:n.13080+43_13080+44delinsCT
XM_011530752.1:c.13077+43_13077+44delinsCT	XP_011529054.1:n.13077+43_13077+44delinsCT
XM_011530753.1:c.13035+43_13035+44delinsCT	XP_011529055.1:n.13035+43_13035+44delinsCT
XM_011530754.1:c.13032+43_13032+44delinsCT	XP_011529056.1:n.13032+43_13032+44delinsCT
XM_011530755.1:c.13029+43_13029+44delinsCT	XP_011529057.1:n.13029+43_13029+44delinsCT
XM_011530756.1:c.12981+43_12981+44delinsCT	XP_011529058.1:n.12981+43_12981+44delinsCT
XM_011530757.1:c.12678+43_12678+44delinsCT	XP_011529059.1:n.12678+43_12678+44delinsCT
XM_005261965.4:c.12831+43_12831+44delinsCT	XP_005262022.1:n.12831+43_12831+44delinsCT
XM_011530751.2:c.13080+43_13080+44delinsCT	XP_011529053.1:n.13080+43_13080+44delinsCT
XM_017029191.1:c.13212+43_13212+44delinsCT	XP_016884680.1:n.13212+43_13212+44delinsCT
XM_017029192.1:c.13209+43_13209+44delinsCT	XP_016884681.1:n.13209+43_13209+44delinsCT
XM_017029193.1:c.13191+43_13191+44delinsCT	XP_016884682.1:n.13191+43_13191+44delinsCT
XM_017029194.1:c.13167+43_13167+44delinsCT	XP_016884683.1:n.13167+43_13167+44delinsCT
XM_017029195.1:c.13164+43_13164+44delinsCT	XP_016884684.1:n.13164+43_13164+44delinsCT
XM_017029196.1:c.13161+43_13161+44delinsCT	XP_016884685.1:n.13161+43_13161+44delinsCT
XM_017029197.1:c.13113+43_13113+44delinsCT	XP_016884686.1:n.13113+43_13113+44delinsCT
XM_017029198.2:c.13101+43_13101+44delinsCT	XP_016884687.1:n.13101+43_13101+44delinsCT
XM_017029199.1:c.13101+43_13101+44delinsCT	XP_016884688.1:n.13101+43_13101+44delinsCT
XM_017029200.1:c.13101+43_13101+44delinsCT	XP_016884689.1:n.13101+43_13101+44delinsCT
XM_017029201.1:c.13101+43_13101+44delinsCT	XP_016884690.1:n.13101+43_13101+44delinsCT
XM_017029202.1:c.13101+43_13101+44delinsCT	XP_016884691.1:n.13101+43_13101+44delinsCT
XM_017029203.1:c.13101+43_13101+44delinsCT	XP_016884692.1:n.13101+43_13101+44delinsCT
XM_017029204.1:c.12963+43_12963+44delinsCT	XP_016884693.1:n.12963+43_12963+44delinsCT
XM_017029206.1:c.12810+43_12810+44delinsCT	XP_016884695.1:n.12810+43_12810+44delinsCT
XM_024452322.1:c.13080+43_13080+44delinsCT	XP_024308090.1:n.13080+43_13080+44delinsCT
NM_031407.7:c.12831+43_12831+44delinsCT MANE Select	NP_113584.3:n.12831+43_12831+44delinsCT