Canonical Allele Identifier: CA2693810177

Gene: HUWE1

Linked Data

• gnomAD v4: X-53533853-AAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53533855_53533857del , CM000685.2:g.53533855_53533857del	GRCh38
NC_000023.10:g.53560816_53560818del , CM000685.1:g.53560816_53560818del	GRCh37
NC_000023.9:g.53577541_53577543del	NCBI36
NG_016261.2:g.157878_157880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12806+151_12806+153del	ENSP00000515693.1:n.12806+151_12806+153del
ENST00000262854.11:c.13022+151_13022+153del MANE Select	ENSP00000262854.6:n.13022+151_13022+153del
ENST00000262854.10:c.13022+151_13022+153del	ENSP00000262854.6:n.13022+151_13022+153del
ENST00000342160.7:c.13022+151_13022+153del	ENSP00000340648.3:n.13022+151_13022+153del
ENST00000426907.5:c.3489+151_3489+153del
ENST00000488459.1:n.486_488del
ENST00000612484.4:c.12995+151_12995+153del	ENSP00000479451.1:n.12995+151_12995+153del
NM_031407.6:c.13022+151_13022+153del	NP_113584.3:n.13022+151_13022+153del
XM_005261965.2:c.13022+151_13022+153del	XP_005262022.1:n.13022+151_13022+153del
XM_011530746.1:c.13271+151_13271+153del	XP_011529048.1:n.13271+151_13271+153del
XM_011530747.1:c.13271+151_13271+153del	XP_011529049.1:n.13271+151_13271+153del
XM_011530748.1:c.13271+151_13271+153del	XP_011529050.1:n.13271+151_13271+153del
XM_011530749.1:c.13271+151_13271+153del	XP_011529051.1:n.13271+151_13271+153del
XM_011530750.1:c.13271+151_13271+153del	XP_011529052.1:n.13271+151_13271+153del
XM_011530751.1:c.13271+151_13271+153del	XP_011529053.1:n.13271+151_13271+153del
XM_011530752.1:c.13268+151_13268+153del	XP_011529054.1:n.13268+151_13268+153del
XM_011530753.1:c.13226+151_13226+153del	XP_011529055.1:n.13226+151_13226+153del
XM_011530754.1:c.13223+151_13223+153del	XP_011529056.1:n.13223+151_13223+153del
XM_011530755.1:c.13220+151_13220+153del	XP_011529057.1:n.13220+151_13220+153del
XM_011530756.1:c.13172+151_13172+153del	XP_011529058.1:n.13172+151_13172+153del
XM_011530757.1:c.12869+151_12869+153del	XP_011529059.1:n.12869+151_12869+153del
XM_005261965.4:c.13022+151_13022+153del	XP_005262022.1:n.13022+151_13022+153del
XM_011530751.2:c.13271+151_13271+153del	XP_011529053.1:n.13271+151_13271+153del
XM_017029191.1:c.13403+151_13403+153del	XP_016884680.1:n.13403+151_13403+153del
XM_017029192.1:c.13400+151_13400+153del	XP_016884681.1:n.13400+151_13400+153del
XM_017029193.1:c.13382+151_13382+153del	XP_016884682.1:n.13382+151_13382+153del
XM_017029194.1:c.13358+151_13358+153del	XP_016884683.1:n.13358+151_13358+153del
XM_017029195.1:c.13355+151_13355+153del	XP_016884684.1:n.13355+151_13355+153del
XM_017029196.1:c.13352+151_13352+153del	XP_016884685.1:n.13352+151_13352+153del
XM_017029197.1:c.13304+151_13304+153del	XP_016884686.1:n.13304+151_13304+153del
XM_017029198.2:c.13292+151_13292+153del	XP_016884687.1:n.13292+151_13292+153del
XM_017029199.1:c.13292+151_13292+153del	XP_016884688.1:n.13292+151_13292+153del
XM_017029200.1:c.13292+151_13292+153del	XP_016884689.1:n.13292+151_13292+153del
XM_017029201.1:c.13292+151_13292+153del	XP_016884690.1:n.13292+151_13292+153del
XM_017029202.1:c.13292+151_13292+153del	XP_016884691.1:n.13292+151_13292+153del
XM_017029203.1:c.13292+151_13292+153del	XP_016884692.1:n.13292+151_13292+153del
XM_017029204.1:c.13154+151_13154+153del	XP_016884693.1:n.13154+151_13154+153del
XM_017029206.1:c.13001+151_13001+153del	XP_016884695.1:n.13001+151_13001+153del
XM_024452322.1:c.13271+151_13271+153del	XP_024308090.1:n.13271+151_13271+153del
NM_031407.7:c.13022+151_13022+153del MANE Select	NP_113584.3:n.13022+151_13022+153del