Canonical Allele Identifier: CA2693810242

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534120-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534121dup , CM000685.2:g.53534121dup	GRCh38
NC_000023.10:g.53561082dup , CM000685.1:g.53561082dup	GRCh37
NC_000023.9:g.53577807dup	NCBI36
NG_016261.2:g.157613dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12692dup	ENSP00000515693.1:p.Ser4232PhefsTer26
ENST00000262854.11:c.12908dup MANE Select	ENSP00000262854.6:p.Ser4304PhefsTer26
ENST00000262854.10:c.12908dup	ENSP00000262854.6:p.Ser4304PhefsTer26
ENST00000342160.7:c.12908dup	ENSP00000340648.3:p.Ser4304PhefsTer26
ENST00000426907.5:c.3375dup
ENST00000488459.1:n.221dup
ENST00000612484.4:c.12881dup	ENSP00000479451.1:p.Ser4295PhefsTer26
NM_031407.6:c.12908dup	NP_113584.3:p.Ser4304PhefsTer26
XM_005261965.2:c.12908dup	XP_005262022.1:p.Ser4304PhefsTer26
XM_011530746.1:c.13157dup	XP_011529048.1:p.Ser4387PhefsTer26
XM_011530747.1:c.13157dup	XP_011529049.1:p.Ser4387PhefsTer26
XM_011530748.1:c.13157dup	XP_011529050.1:p.Ser4387PhefsTer26
XM_011530749.1:c.13157dup	XP_011529051.1:p.Ser4387PhefsTer26
XM_011530750.1:c.13157dup	XP_011529052.1:p.Ser4387PhefsTer26
XM_011530751.1:c.13157dup	XP_011529053.1:p.Ser4387PhefsTer26
XM_011530752.1:c.13154dup	XP_011529054.1:p.Ser4386PhefsTer26
XM_011530753.1:c.13112dup	XP_011529055.1:p.Ser4372PhefsTer26
XM_011530754.1:c.13109dup	XP_011529056.1:p.Ser4371PhefsTer26
XM_011530755.1:c.13106dup	XP_011529057.1:p.Ser4370PhefsTer26
XM_011530756.1:c.13058dup	XP_011529058.1:p.Ser4354PhefsTer26
XM_011530757.1:c.12755dup	XP_011529059.1:p.Ser4253PhefsTer26
XM_005261965.4:c.12908dup	XP_005262022.1:p.Ser4304PhefsTer26
XM_011530751.2:c.13157dup	XP_011529053.1:p.Ser4387PhefsTer26
XM_017029191.1:c.13289dup	XP_016884680.1:p.Ser4431PhefsTer26
XM_017029192.1:c.13286dup	XP_016884681.1:p.Ser4430PhefsTer26
XM_017029193.1:c.13268dup	XP_016884682.1:p.Ser4424PhefsTer26
XM_017029194.1:c.13244dup	XP_016884683.1:p.Ser4416PhefsTer26
XM_017029195.1:c.13241dup	XP_016884684.1:p.Ser4415PhefsTer26
XM_017029196.1:c.13238dup	XP_016884685.1:p.Ser4414PhefsTer26
XM_017029197.1:c.13190dup	XP_016884686.1:p.Ser4398PhefsTer26
XM_017029198.2:c.13178dup	XP_016884687.1:p.Ser4394PhefsTer26
XM_017029199.1:c.13178dup	XP_016884688.1:p.Ser4394PhefsTer26
XM_017029200.1:c.13178dup	XP_016884689.1:p.Ser4394PhefsTer26
XM_017029201.1:c.13178dup	XP_016884690.1:p.Ser4394PhefsTer26
XM_017029202.1:c.13178dup	XP_016884691.1:p.Ser4394PhefsTer26
XM_017029203.1:c.13178dup	XP_016884692.1:p.Ser4394PhefsTer26
XM_017029204.1:c.13040dup	XP_016884693.1:p.Ser4348PhefsTer26
XM_017029206.1:c.12887dup	XP_016884695.1:p.Ser4297PhefsTer26
XM_024452322.1:c.13157dup	XP_024308090.1:p.Ser4387PhefsTer26
NM_031407.7:c.12908dup MANE Select	NP_113584.3:p.Ser4304PhefsTer26