Canonical Allele Identifier: CA2662676734
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201724407_201724412del , CM000664.2:g.201724407_201724412del GRCh38
NC_000002.11:g.202589130_202589135del , CM000664.1:g.202589130_202589135del GRCh37
NC_000002.10:g.202297375_202297380del NCBI36
NG_008775.1:g.61770_61775del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.3404_3409del MANE Select ENSP00000264276.6:p.His1135_Gly1136del
ENST00000439495.6:c.1082_1087del ENSP00000403832.2:p.His361_Gly362del
ENST00000482891.6:n.4172_4177del
ENST00000494017.6:n.1136_1141del
ENST00000679409.1:c.1082_1087del ENSP00000506531.1:p.His361_Gly362del
ENST00000679416.1:n.4908_4913del
ENST00000679435.1:c.3404_3409del ENSP00000505218.1:p.His1135_Gly1136del
ENST00000679516.1:c.3404_3409del ENSP00000505187.1:p.His1135_Gly1136del
ENST00000679618.1:c.*492_*497del ENSP00000506274.1:n.*492_*497del
ENST00000679630.1:n.5253_5258del
ENST00000679686.1:n.3518_3523del
ENST00000679701.1:n.6396_6401del
ENST00000679916.1:c.3404_3409del ENSP00000506172.1:p.His1135_Gly1136del
ENST00000680000.1:c.3404_3409del ENSP00000506173.1:p.His1135_Gly1136del
ENST00000680135.1:c.*1368_*1373del ENSP00000506211.1:n.*1368_*1373del
ENST00000680149.1:c.3404_3409del ENSP00000506497.1:p.His1135_Gly1136del
ENST00000680163.1:c.3404_3409del ENSP00000505092.1:p.His1135_Gly1136del
ENST00000680174.1:n.4095_4100del
ENST00000680236.1:c.*465_*470del ENSP00000506212.1:n.*465_*470del
ENST00000680497.1:c.3506_3511del ENSP00000505954.1:p.His1169_Gly1170del
ENST00000680508.1:c.3404_3409del ENSP00000505749.1:p.His1135_Gly1136del
ENST00000680569.1:c.*1115_*1120del ENSP00000505522.1:n.*1115_*1120del
ENST00000680630.1:n.3836_3841del
ENST00000680634.1:n.21-3914_21-3909del
ENST00000680722.1:n.1204_1209del
ENST00000680723.1:n.4187_4192del
ENST00000680726.1:c.3404_3409del ENSP00000505505.1:p.His1135_Gly1136del
ENST00000680737.1:n.3675_3680del
ENST00000680759.1:c.3404_3409del ENSP00000505848.1:p.His1135_Gly1136del
ENST00000680814.1:c.3404_3409del ENSP00000505710.1:p.His1135_Gly1136del
ENST00000680828.1:c.*976_*981del ENSP00000505249.1:n.*976_*981del
ENST00000680861.1:c.3404_3409del ENSP00000505043.1:p.His1135_Gly1136del
ENST00000680927.1:c.3404_3409del ENSP00000505473.1:p.His1135_Gly1136del
ENST00000680939.1:n.3746_3751del
ENST00000681152.1:c.3404_3409del ENSP00000505388.1:p.His1135_Gly1136del
ENST00000681250.1:c.*121_*126del ENSP00000505684.1:n.*121_*126del
ENST00000681256.1:c.*1422_*1427del ENSP00000505446.1:n.*1422_*1427del
ENST00000681279.1:n.4172_4177del
ENST00000681303.1:c.3404_3409del ENSP00000505576.1:p.His1135_Gly1136del
ENST00000681307.1:n.4517_4522del
ENST00000681461.1:n.4172_4177del
ENST00000681495.1:c.944_949del ENSP00000506085.1:p.His315_Gly316del
ENST00000681558.1:c.1082_1087del ENSP00000505568.1:p.His361_Gly362del
ENST00000681619.1:c.3404_3409del ENSP00000505071.1:p.His1135_Gly1136del
ENST00000681716.1:c.*1115_*1120del ENSP00000505078.1:n.*1115_*1120del
ENST00000681758.1:n.3746_3751del
ENST00000681768.1:c.*1068_*1073del ENSP00000506311.1:n.*1068_*1073del
ENST00000681808.1:c.3404_3409del ENSP00000505219.1:p.His1135_Gly1136del
ENST00000264276.10:c.3404_3409del ENSP00000264276.6:p.His1135_Gly1136del
ENST00000439495.5:c.1365_1370del
ENST00000482891.5:n.3544_3549del
ENST00000489440.5:n.225_230del
NM_020919.3:c.3404_3409del NP_065970.2:p.His1135_Gly1136del
XM_005246709.2:c.3404_3409del XP_005246766.1:p.His1135_Gly1136del
XM_006712654.1:c.3404_3409del XP_006712717.1:p.His1135_Gly1136del
XM_006712655.2:c.1340_1345del XP_006712718.1:p.His447_Gly448del
XM_011511530.1:c.3065_3070del XP_011509832.1:p.His1022_Gly1023del
XM_011511531.1:c.3404_3409del XP_011509833.1:p.His1135_Gly1136del
XR_922974.1:n.3539_3544del
XM_006712654.3:c.3404_3409del XP_006712717.1:p.His1135_Gly1136del
XM_006712655.3:c.1340_1345del XP_006712718.1:p.His447_Gly448del
XM_017004569.2:c.3404_3409del XP_016860058.1:p.His1135_Gly1136del
XM_017004570.2:c.3404_3409del XP_016860059.1:p.His1135_Gly1136del
XM_017004572.2:c.1022_1027del XP_016860061.1:p.His341_Gly342del
XM_024453024.1:c.3065_3070del XP_024308792.1:p.His1022_Gly1023del
XM_024453025.1:c.1340_1345del XP_024308793.1:p.His447_Gly448del
XR_001738864.2:n.3539_3544del
XR_001738865.2:n.3539_3544del
XR_001738866.2:n.3539_3544del
XR_001738867.2:n.3539_3544del
XR_002959320.1:n.2595_2600del
NM_020919.4:c.3404_3409del MANE Select NP_065970.2:p.His1135_Gly1136del