Canonical Allele Identifier: CA2693810247

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534208-G-GGACCCATGAAGCCAGTGTTAGGTAGAAAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534209_53534238dup , CM000685.2:g.53534209_53534238dup	GRCh38
NC_000023.10:g.53561170_53561199dup , CM000685.1:g.53561170_53561199dup	GRCh37
NC_000023.9:g.53577895_53577924dup	NCBI36
NG_016261.2:g.157496_157525dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12616-41_12616-12dup	ENSP00000515693.1:n.12616-41_12616-12dup
ENST00000262854.11:c.12832-41_12832-12dup MANE Select	ENSP00000262854.6:n.12832-41_12832-12dup
ENST00000262854.10:c.12832-41_12832-12dup	ENSP00000262854.6:n.12832-41_12832-12dup
ENST00000342160.7:c.12832-41_12832-12dup	ENSP00000340648.3:n.12832-41_12832-12dup
ENST00000426907.5:c.3299-41_3299-12dup
ENST00000488459.1:n.145-41_145-12dup
ENST00000612484.4:c.12805-41_12805-12dup	ENSP00000479451.1:n.12805-41_12805-12dup
NM_031407.6:c.12832-41_12832-12dup	NP_113584.3:n.12832-41_12832-12dup
XM_005261965.2:c.12832-41_12832-12dup	XP_005262022.1:n.12832-41_12832-12dup
XM_011530746.1:c.13081-41_13081-12dup	XP_011529048.1:n.13081-41_13081-12dup
XM_011530747.1:c.13081-41_13081-12dup	XP_011529049.1:n.13081-41_13081-12dup
XM_011530748.1:c.13081-41_13081-12dup	XP_011529050.1:n.13081-41_13081-12dup
XM_011530749.1:c.13081-41_13081-12dup	XP_011529051.1:n.13081-41_13081-12dup
XM_011530750.1:c.13081-41_13081-12dup	XP_011529052.1:n.13081-41_13081-12dup
XM_011530751.1:c.13081-41_13081-12dup	XP_011529053.1:n.13081-41_13081-12dup
XM_011530752.1:c.13078-41_13078-12dup	XP_011529054.1:n.13078-41_13078-12dup
XM_011530753.1:c.13036-41_13036-12dup	XP_011529055.1:n.13036-41_13036-12dup
XM_011530754.1:c.13033-41_13033-12dup	XP_011529056.1:n.13033-41_13033-12dup
XM_011530755.1:c.13030-41_13030-12dup	XP_011529057.1:n.13030-41_13030-12dup
XM_011530756.1:c.12982-41_12982-12dup	XP_011529058.1:n.12982-41_12982-12dup
XM_011530757.1:c.12679-41_12679-12dup	XP_011529059.1:n.12679-41_12679-12dup
XM_005261965.4:c.12832-41_12832-12dup	XP_005262022.1:n.12832-41_12832-12dup
XM_011530751.2:c.13081-41_13081-12dup	XP_011529053.1:n.13081-41_13081-12dup
XM_017029191.1:c.13213-41_13213-12dup	XP_016884680.1:n.13213-41_13213-12dup
XM_017029192.1:c.13210-41_13210-12dup	XP_016884681.1:n.13210-41_13210-12dup
XM_017029193.1:c.13192-41_13192-12dup	XP_016884682.1:n.13192-41_13192-12dup
XM_017029194.1:c.13168-41_13168-12dup	XP_016884683.1:n.13168-41_13168-12dup
XM_017029195.1:c.13165-41_13165-12dup	XP_016884684.1:n.13165-41_13165-12dup
XM_017029196.1:c.13162-41_13162-12dup	XP_016884685.1:n.13162-41_13162-12dup
XM_017029197.1:c.13114-41_13114-12dup	XP_016884686.1:n.13114-41_13114-12dup
XM_017029198.2:c.13102-41_13102-12dup	XP_016884687.1:n.13102-41_13102-12dup
XM_017029199.1:c.13102-41_13102-12dup	XP_016884688.1:n.13102-41_13102-12dup
XM_017029200.1:c.13102-41_13102-12dup	XP_016884689.1:n.13102-41_13102-12dup
XM_017029201.1:c.13102-41_13102-12dup	XP_016884690.1:n.13102-41_13102-12dup
XM_017029202.1:c.13102-41_13102-12dup	XP_016884691.1:n.13102-41_13102-12dup
XM_017029203.1:c.13102-41_13102-12dup	XP_016884692.1:n.13102-41_13102-12dup
XM_017029204.1:c.12964-41_12964-12dup	XP_016884693.1:n.12964-41_12964-12dup
XM_017029206.1:c.12811-41_12811-12dup	XP_016884695.1:n.12811-41_12811-12dup
XM_024452322.1:c.13081-41_13081-12dup	XP_024308090.1:n.13081-41_13081-12dup
NM_031407.7:c.12832-41_12832-12dup MANE Select	NP_113584.3:n.12832-41_12832-12dup