Canonical Allele Identifier: CA2693810124

Gene: HUWE1

Linked Data

• gnomAD v4: X-53533758-G-GGAGACTCACTGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53533758_53533759insGAGACTCACTGGAT , CM000685.2:g.53533758_53533759insGAGACTCACTGGAT	GRCh38
NC_000023.10:g.53560719_53560720insGAGACTCACTGGAT , CM000685.1:g.53560719_53560720insGAGACTCACTGGAT	GRCh37
NC_000023.9:g.53577444_53577445insGAGACTCACTGGAT	NCBI36
NG_016261.2:g.157975_157976insATCCAGTGAGTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12806+248_12806+249insATCCAGTGAGTCTC	ENSP00000515693.1:n.12806+248_12806+249insATCCAGTGAGTCTC
ENST00000262854.11:c.13022+248_13022+249insATCCAGTGAGTCTC MANE Select	ENSP00000262854.6:n.13022+248_13022+249insATCCAGTGAGTCTC
ENST00000262854.10:c.13022+248_13022+249insATCCAGTGAGTCTC	ENSP00000262854.6:n.13022+248_13022+249insATCCAGTGAGTCTC
ENST00000342160.7:c.13022+248_13022+249insATCCAGTGAGTCTC	ENSP00000340648.3:n.13022+248_13022+249insATCCAGTGAGTCTC
ENST00000426907.5:c.3489+248_3489+249insATCCAGTGAGTCTC
ENST00000488459.1:n.583_584insATCCAGTGAGTCTC
ENST00000612484.4:c.12995+248_12995+249insATCCAGTGAGTCTC	ENSP00000479451.1:n.12995+248_12995+249insATCCAGTGAGTCTC
NM_031407.6:c.13022+248_13022+249insATCCAGTGAGTCTC	NP_113584.3:n.13022+248_13022+249insATCCAGTGAGTCTC
XM_005261965.2:c.13022+248_13022+249insATCCAGTGAGTCTC	XP_005262022.1:n.13022+248_13022+249insATCCAGTGAGTCTC
XM_011530746.1:c.13271+248_13271+249insATCCAGTGAGTCTC	XP_011529048.1:n.13271+248_13271+249insATCCAGTGAGTCTC
XM_011530747.1:c.13271+248_13271+249insATCCAGTGAGTCTC	XP_011529049.1:n.13271+248_13271+249insATCCAGTGAGTCTC
XM_011530748.1:c.13271+248_13271+249insATCCAGTGAGTCTC	XP_011529050.1:n.13271+248_13271+249insATCCAGTGAGTCTC
XM_011530749.1:c.13271+248_13271+249insATCCAGTGAGTCTC	XP_011529051.1:n.13271+248_13271+249insATCCAGTGAGTCTC
XM_011530750.1:c.13271+248_13271+249insATCCAGTGAGTCTC	XP_011529052.1:n.13271+248_13271+249insATCCAGTGAGTCTC
XM_011530751.1:c.13271+248_13271+249insATCCAGTGAGTCTC	XP_011529053.1:n.13271+248_13271+249insATCCAGTGAGTCTC
XM_011530752.1:c.13268+248_13268+249insATCCAGTGAGTCTC	XP_011529054.1:n.13268+248_13268+249insATCCAGTGAGTCTC
XM_011530753.1:c.13226+248_13226+249insATCCAGTGAGTCTC	XP_011529055.1:n.13226+248_13226+249insATCCAGTGAGTCTC
XM_011530754.1:c.13223+248_13223+249insATCCAGTGAGTCTC	XP_011529056.1:n.13223+248_13223+249insATCCAGTGAGTCTC
XM_011530755.1:c.13220+248_13220+249insATCCAGTGAGTCTC	XP_011529057.1:n.13220+248_13220+249insATCCAGTGAGTCTC
XM_011530756.1:c.13172+248_13172+249insATCCAGTGAGTCTC	XP_011529058.1:n.13172+248_13172+249insATCCAGTGAGTCTC
XM_011530757.1:c.12869+248_12869+249insATCCAGTGAGTCTC	XP_011529059.1:n.12869+248_12869+249insATCCAGTGAGTCTC
XM_005261965.4:c.13022+248_13022+249insATCCAGTGAGTCTC	XP_005262022.1:n.13022+248_13022+249insATCCAGTGAGTCTC
XM_011530751.2:c.13271+248_13271+249insATCCAGTGAGTCTC	XP_011529053.1:n.13271+248_13271+249insATCCAGTGAGTCTC
XM_017029191.1:c.13403+248_13403+249insATCCAGTGAGTCTC	XP_016884680.1:n.13403+248_13403+249insATCCAGTGAGTCTC
XM_017029192.1:c.13400+248_13400+249insATCCAGTGAGTCTC	XP_016884681.1:n.13400+248_13400+249insATCCAGTGAGTCTC
XM_017029193.1:c.13382+248_13382+249insATCCAGTGAGTCTC	XP_016884682.1:n.13382+248_13382+249insATCCAGTGAGTCTC
XM_017029194.1:c.13358+248_13358+249insATCCAGTGAGTCTC	XP_016884683.1:n.13358+248_13358+249insATCCAGTGAGTCTC
XM_017029195.1:c.13355+248_13355+249insATCCAGTGAGTCTC	XP_016884684.1:n.13355+248_13355+249insATCCAGTGAGTCTC
XM_017029196.1:c.13352+248_13352+249insATCCAGTGAGTCTC	XP_016884685.1:n.13352+248_13352+249insATCCAGTGAGTCTC
XM_017029197.1:c.13304+248_13304+249insATCCAGTGAGTCTC	XP_016884686.1:n.13304+248_13304+249insATCCAGTGAGTCTC
XM_017029198.2:c.13292+248_13292+249insATCCAGTGAGTCTC	XP_016884687.1:n.13292+248_13292+249insATCCAGTGAGTCTC
XM_017029199.1:c.13292+248_13292+249insATCCAGTGAGTCTC	XP_016884688.1:n.13292+248_13292+249insATCCAGTGAGTCTC
XM_017029200.1:c.13292+248_13292+249insATCCAGTGAGTCTC	XP_016884689.1:n.13292+248_13292+249insATCCAGTGAGTCTC
XM_017029201.1:c.13292+248_13292+249insATCCAGTGAGTCTC	XP_016884690.1:n.13292+248_13292+249insATCCAGTGAGTCTC
XM_017029202.1:c.13292+248_13292+249insATCCAGTGAGTCTC	XP_016884691.1:n.13292+248_13292+249insATCCAGTGAGTCTC
XM_017029203.1:c.13292+248_13292+249insATCCAGTGAGTCTC	XP_016884692.1:n.13292+248_13292+249insATCCAGTGAGTCTC
XM_017029204.1:c.13154+248_13154+249insATCCAGTGAGTCTC	XP_016884693.1:n.13154+248_13154+249insATCCAGTGAGTCTC
XM_017029206.1:c.13001+248_13001+249insATCCAGTGAGTCTC	XP_016884695.1:n.13001+248_13001+249insATCCAGTGAGTCTC
XM_024452322.1:c.13271+248_13271+249insATCCAGTGAGTCTC	XP_024308090.1:n.13271+248_13271+249insATCCAGTGAGTCTC
NM_031407.7:c.13022+248_13022+249insATCCAGTGAGTCTC MANE Select	NP_113584.3:n.13022+248_13022+249insATCCAGTGAGTCTC