Canonical Allele Identifier: CA2741751099

Gene: HUWE1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534229_53534230insCTT , CM000685.2:g.53534229_53534230insCTT	GRCh38
NC_000023.10:g.53561190_53561191insCTT , CM000685.1:g.53561190_53561191insCTT	GRCh37
NC_000023.9:g.53577915_53577916insCTT	NCBI36
NG_016261.2:g.157504_157505insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12616-33_12616-32insAAG	ENSP00000515693.1:n.12616-33_12616-32insAAG
ENST00000262854.11:c.12832-33_12832-32insAAG MANE Select	ENSP00000262854.6:n.12832-33_12832-32insAAG
ENST00000262854.10:c.12832-33_12832-32insAAG	ENSP00000262854.6:n.12832-33_12832-32insAAG
ENST00000342160.7:c.12832-33_12832-32insAAG	ENSP00000340648.3:n.12832-33_12832-32insAAG
ENST00000426907.5:c.3299-33_3299-32insAAG
ENST00000488459.1:n.145-33_145-32insAAG
ENST00000612484.4:c.12805-33_12805-32insAAG	ENSP00000479451.1:n.12805-33_12805-32insAAG
NM_031407.6:c.12832-33_12832-32insAAG	NP_113584.3:n.12832-33_12832-32insAAG
XM_005261965.2:c.12832-33_12832-32insAAG	XP_005262022.1:n.12832-33_12832-32insAAG
XM_011530746.1:c.13081-33_13081-32insAAG	XP_011529048.1:n.13081-33_13081-32insAAG
XM_011530747.1:c.13081-33_13081-32insAAG	XP_011529049.1:n.13081-33_13081-32insAAG
XM_011530748.1:c.13081-33_13081-32insAAG	XP_011529050.1:n.13081-33_13081-32insAAG
XM_011530749.1:c.13081-33_13081-32insAAG	XP_011529051.1:n.13081-33_13081-32insAAG
XM_011530750.1:c.13081-33_13081-32insAAG	XP_011529052.1:n.13081-33_13081-32insAAG
XM_011530751.1:c.13081-33_13081-32insAAG	XP_011529053.1:n.13081-33_13081-32insAAG
XM_011530752.1:c.13078-33_13078-32insAAG	XP_011529054.1:n.13078-33_13078-32insAAG
XM_011530753.1:c.13036-33_13036-32insAAG	XP_011529055.1:n.13036-33_13036-32insAAG
XM_011530754.1:c.13033-33_13033-32insAAG	XP_011529056.1:n.13033-33_13033-32insAAG
XM_011530755.1:c.13030-33_13030-32insAAG	XP_011529057.1:n.13030-33_13030-32insAAG
XM_011530756.1:c.12982-33_12982-32insAAG	XP_011529058.1:n.12982-33_12982-32insAAG
XM_011530757.1:c.12679-33_12679-32insAAG	XP_011529059.1:n.12679-33_12679-32insAAG
XM_005261965.4:c.12832-33_12832-32insAAG	XP_005262022.1:n.12832-33_12832-32insAAG
XM_011530751.2:c.13081-33_13081-32insAAG	XP_011529053.1:n.13081-33_13081-32insAAG
XM_017029191.1:c.13213-33_13213-32insAAG	XP_016884680.1:n.13213-33_13213-32insAAG
XM_017029192.1:c.13210-33_13210-32insAAG	XP_016884681.1:n.13210-33_13210-32insAAG
XM_017029193.1:c.13192-33_13192-32insAAG	XP_016884682.1:n.13192-33_13192-32insAAG
XM_017029194.1:c.13168-33_13168-32insAAG	XP_016884683.1:n.13168-33_13168-32insAAG
XM_017029195.1:c.13165-33_13165-32insAAG	XP_016884684.1:n.13165-33_13165-32insAAG
XM_017029196.1:c.13162-33_13162-32insAAG	XP_016884685.1:n.13162-33_13162-32insAAG
XM_017029197.1:c.13114-33_13114-32insAAG	XP_016884686.1:n.13114-33_13114-32insAAG
XM_017029198.2:c.13102-33_13102-32insAAG	XP_016884687.1:n.13102-33_13102-32insAAG
XM_017029199.1:c.13102-33_13102-32insAAG	XP_016884688.1:n.13102-33_13102-32insAAG
XM_017029200.1:c.13102-33_13102-32insAAG	XP_016884689.1:n.13102-33_13102-32insAAG
XM_017029201.1:c.13102-33_13102-32insAAG	XP_016884690.1:n.13102-33_13102-32insAAG
XM_017029202.1:c.13102-33_13102-32insAAG	XP_016884691.1:n.13102-33_13102-32insAAG
XM_017029203.1:c.13102-33_13102-32insAAG	XP_016884692.1:n.13102-33_13102-32insAAG
XM_017029204.1:c.12964-33_12964-32insAAG	XP_016884693.1:n.12964-33_12964-32insAAG
XM_017029206.1:c.12811-33_12811-32insAAG	XP_016884695.1:n.12811-33_12811-32insAAG
XM_024452322.1:c.13081-33_13081-32insAAG	XP_024308090.1:n.13081-33_13081-32insAAG
NM_031407.7:c.12832-33_12832-32insAAG MANE Select	NP_113584.3:n.12832-33_12832-32insAAG