Canonical Allele Identifier: CA645605901

Gene: HUWE1

Linked Data

• COSMIC: COSM1714993 ; COSM1714994

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534528_53534529delinsAA , CM000685.2:g.53534528_53534529delinsAA	GRCh38
NC_000023.10:g.53561489_53561490delinsAA , CM000685.1:g.53561489_53561490delinsAA	GRCh37
NC_000023.9:g.53578214_53578215delinsAA	NCBI36
NG_016261.2:g.157205_157206delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12602_12603delinsTT	ENSP00000515693.1:p.Ser4201Phe
ENST00000262854.11:c.12818_12819delinsTT MANE Select	ENSP00000262854.6:p.Ser4273Phe
ENST00000262854.10:c.12818_12819delinsTT	ENSP00000262854.6:p.Ser4273Phe
ENST00000342160.7:c.12818_12819delinsTT	ENSP00000340648.3:p.Ser4273Phe
ENST00000426907.5:c.3285_3286delinsTT
ENST00000488459.1:n.131_132delinsTT
ENST00000612484.4:c.12791_12792delinsTT	ENSP00000479451.1:p.Ser4264Phe
NM_031407.6:c.12818_12819delinsTT	NP_113584.3:p.Ser4273Phe
XM_005261965.2:c.12818_12819delinsTT	XP_005262022.1:p.Ser4273Phe
XM_011530746.1:c.13067_13068delinsTT	XP_011529048.1:p.Ser4356Phe
XM_011530747.1:c.13067_13068delinsTT	XP_011529049.1:p.Ser4356Phe
XM_011530748.1:c.13067_13068delinsTT	XP_011529050.1:p.Ser4356Phe
XM_011530749.1:c.13067_13068delinsTT	XP_011529051.1:p.Ser4356Phe
XM_011530750.1:c.13067_13068delinsTT	XP_011529052.1:p.Ser4356Phe
XM_011530751.1:c.13067_13068delinsTT	XP_011529053.1:p.Ser4356Phe
XM_011530752.1:c.13064_13065delinsTT	XP_011529054.1:p.Ser4355Phe
XM_011530753.1:c.13022_13023delinsTT	XP_011529055.1:p.Ser4341Phe
XM_011530754.1:c.13019_13020delinsTT	XP_011529056.1:p.Ser4340Phe
XM_011530755.1:c.13016_13017delinsTT	XP_011529057.1:p.Ser4339Phe
XM_011530756.1:c.12968_12969delinsTT	XP_011529058.1:p.Ser4323Phe
XM_011530757.1:c.12665_12666delinsTT	XP_011529059.1:p.Ser4222Phe
XM_005261965.4:c.12818_12819delinsTT	XP_005262022.1:p.Ser4273Phe
XM_011530751.2:c.13067_13068delinsTT	XP_011529053.1:p.Ser4356Phe
XM_017029191.1:c.13199_13200delinsTT	XP_016884680.1:p.Ser4400Phe
XM_017029192.1:c.13196_13197delinsTT	XP_016884681.1:p.Ser4399Phe
XM_017029193.1:c.13178_13179delinsTT	XP_016884682.1:p.Ser4393Phe
XM_017029194.1:c.13154_13155delinsTT	XP_016884683.1:p.Ser4385Phe
XM_017029195.1:c.13151_13152delinsTT	XP_016884684.1:p.Ser4384Phe
XM_017029196.1:c.13148_13149delinsTT	XP_016884685.1:p.Ser4383Phe
XM_017029197.1:c.13100_13101delinsTT	XP_016884686.1:p.Ser4367Phe
XM_017029198.2:c.13088_13089delinsTT	XP_016884687.1:p.Ser4363Phe
XM_017029199.1:c.13088_13089delinsTT	XP_016884688.1:p.Ser4363Phe
XM_017029200.1:c.13088_13089delinsTT	XP_016884689.1:p.Ser4363Phe
XM_017029201.1:c.13088_13089delinsTT	XP_016884690.1:p.Ser4363Phe
XM_017029202.1:c.13088_13089delinsTT	XP_016884691.1:p.Ser4363Phe
XM_017029203.1:c.13088_13089delinsTT	XP_016884692.1:p.Ser4363Phe
XM_017029204.1:c.12950_12951delinsTT	XP_016884693.1:p.Ser4317Phe
XM_017029206.1:c.12797_12798delinsTT	XP_016884695.1:p.Ser4266Phe
XM_024452322.1:c.13067_13068delinsTT	XP_024308090.1:p.Ser4356Phe
NM_031407.7:c.12818_12819delinsTT MANE Select	NP_113584.3:p.Ser4273Phe