Canonical Allele Identifier: CA2429869142

Gene: HUWE1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534731_53534740delinsAAACTCACAC , CM000685.2:g.53534731_53534740delinsAAACTCACAC	GRCh38
NC_000023.10:g.53561692_53561701delinsAAACTCACAC , CM000685.1:g.53561692_53561701delinsAAACTCACAC	GRCh37
NC_000023.9:g.53578417_53578426delinsAAACTCACAC	NCBI36
NG_016261.2:g.156994_157003delinsGTGTGAGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12434-43_12434-34delinsGTGTGAGTTT	ENSP00000515693.1:n.12434-43_12434-34delinsGTGTGAGTTT
ENST00000262854.11:c.12650-43_12650-34delinsGTGTGAGTTT MANE Select	ENSP00000262854.6:n.12650-43_12650-34delinsGTGTGAGTTT
ENST00000262854.10:c.12650-43_12650-34delinsGTGTGAGTTT	ENSP00000262854.6:n.12650-43_12650-34delinsGTGTGAGTTT
ENST00000342160.7:c.12650-43_12650-34delinsGTGTGAGTTT	ENSP00000340648.3:n.12650-43_12650-34delinsGTGTGAGTTT
ENST00000426907.5:c.3117-43_3117-34delinsGTGTGAGTTT
ENST00000612484.4:c.12623-43_12623-34delinsGTGTGAGTTT	ENSP00000479451.1:n.12623-43_12623-34delinsGTGTGAGTTT
NM_031407.6:c.12650-43_12650-34delinsGTGTGAGTTT	NP_113584.3:n.12650-43_12650-34delinsGTGTGAGTTT
XM_005261965.2:c.12650-43_12650-34delinsGTGTGAGTTT	XP_005262022.1:n.12650-43_12650-34delinsGTGTGAGTTT
XM_011530746.1:c.12899-43_12899-34delinsGTGTGAGTTT	XP_011529048.1:n.12899-43_12899-34delinsGTGTGAGTTT
XM_011530747.1:c.12899-43_12899-34delinsGTGTGAGTTT	XP_011529049.1:n.12899-43_12899-34delinsGTGTGAGTTT
XM_011530748.1:c.12899-43_12899-34delinsGTGTGAGTTT	XP_011529050.1:n.12899-43_12899-34delinsGTGTGAGTTT
XM_011530749.1:c.12899-43_12899-34delinsGTGTGAGTTT	XP_011529051.1:n.12899-43_12899-34delinsGTGTGAGTTT
XM_011530750.1:c.12899-43_12899-34delinsGTGTGAGTTT	XP_011529052.1:n.12899-43_12899-34delinsGTGTGAGTTT
XM_011530751.1:c.12899-43_12899-34delinsGTGTGAGTTT	XP_011529053.1:n.12899-43_12899-34delinsGTGTGAGTTT
XM_011530752.1:c.12896-43_12896-34delinsGTGTGAGTTT	XP_011529054.1:n.12896-43_12896-34delinsGTGTGAGTTT
XM_011530753.1:c.12854-43_12854-34delinsGTGTGAGTTT	XP_011529055.1:n.12854-43_12854-34delinsGTGTGAGTTT
XM_011530754.1:c.12851-43_12851-34delinsGTGTGAGTTT	XP_011529056.1:n.12851-43_12851-34delinsGTGTGAGTTT
XM_011530755.1:c.12848-43_12848-34delinsGTGTGAGTTT	XP_011529057.1:n.12848-43_12848-34delinsGTGTGAGTTT
XM_011530756.1:c.12800-43_12800-34delinsGTGTGAGTTT	XP_011529058.1:n.12800-43_12800-34delinsGTGTGAGTTT
XM_011530757.1:c.12497-43_12497-34delinsGTGTGAGTTT	XP_011529059.1:n.12497-43_12497-34delinsGTGTGAGTTT
XM_005261965.4:c.12650-43_12650-34delinsGTGTGAGTTT	XP_005262022.1:n.12650-43_12650-34delinsGTGTGAGTTT
XM_011530751.2:c.12899-43_12899-34delinsGTGTGAGTTT	XP_011529053.1:n.12899-43_12899-34delinsGTGTGAGTTT
XM_017029191.1:c.13031-43_13031-34delinsGTGTGAGTTT	XP_016884680.1:n.13031-43_13031-34delinsGTGTGAGTTT
XM_017029192.1:c.13028-43_13028-34delinsGTGTGAGTTT	XP_016884681.1:n.13028-43_13028-34delinsGTGTGAGTTT
XM_017029193.1:c.13010-43_13010-34delinsGTGTGAGTTT	XP_016884682.1:n.13010-43_13010-34delinsGTGTGAGTTT
XM_017029194.1:c.12986-43_12986-34delinsGTGTGAGTTT	XP_016884683.1:n.12986-43_12986-34delinsGTGTGAGTTT
XM_017029195.1:c.12983-43_12983-34delinsGTGTGAGTTT	XP_016884684.1:n.12983-43_12983-34delinsGTGTGAGTTT
XM_017029196.1:c.12980-43_12980-34delinsGTGTGAGTTT	XP_016884685.1:n.12980-43_12980-34delinsGTGTGAGTTT
XM_017029197.1:c.12932-43_12932-34delinsGTGTGAGTTT	XP_016884686.1:n.12932-43_12932-34delinsGTGTGAGTTT
XM_017029198.2:c.12920-43_12920-34delinsGTGTGAGTTT	XP_016884687.1:n.12920-43_12920-34delinsGTGTGAGTTT
XM_017029199.1:c.12920-43_12920-34delinsGTGTGAGTTT	XP_016884688.1:n.12920-43_12920-34delinsGTGTGAGTTT
XM_017029200.1:c.12920-43_12920-34delinsGTGTGAGTTT	XP_016884689.1:n.12920-43_12920-34delinsGTGTGAGTTT
XM_017029201.1:c.12920-43_12920-34delinsGTGTGAGTTT	XP_016884690.1:n.12920-43_12920-34delinsGTGTGAGTTT
XM_017029202.1:c.12920-43_12920-34delinsGTGTGAGTTT	XP_016884691.1:n.12920-43_12920-34delinsGTGTGAGTTT
XM_017029203.1:c.12920-43_12920-34delinsGTGTGAGTTT	XP_016884692.1:n.12920-43_12920-34delinsGTGTGAGTTT
XM_017029204.1:c.12782-43_12782-34delinsGTGTGAGTTT	XP_016884693.1:n.12782-43_12782-34delinsGTGTGAGTTT
XM_017029206.1:c.12629-43_12629-34delinsGTGTGAGTTT	XP_016884695.1:n.12629-43_12629-34delinsGTGTGAGTTT
XM_024452322.1:c.12899-43_12899-34delinsGTGTGAGTTT	XP_024308090.1:n.12899-43_12899-34delinsGTGTGAGTTT
NM_031407.7:c.12650-43_12650-34delinsGTGTGAGTTT MANE Select	NP_113584.3:n.12650-43_12650-34delinsGTGTGAGTTT