Canonical Allele Identifier: CA2573134343
Community Standard Title: NM_020919.4(ALS2):c.4838+19del
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704437del , CM000664.2:g.201704437del GRCh38
NC_000002.11:g.202569160del , CM000664.1:g.202569160del GRCh37
NC_000002.10:g.202277405del NCBI36
NG_008775.1:g.81738del

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4838+19del MANE Select NP_065970.2:n.4838+19del
ENST00000264276.11:c.4838+19del MANE Select ENSP00000264276.6:n.4838+19del
NM_020919.3:c.4838+19del NP_065970.2:n.4838+19del
ENST00000264276.10:c.4838+19del ENSP00000264276.6:n.4838+19del
ENST00000439495.5:c.2942+19del
ENST00000439495.6:c.*1018+19del ENSP00000403832.2:n.*1018+19del
ENST00000679409.1:c.*1327del ENSP00000506531.1:n.*1327del
ENST00000679416.1:n.6342+19del
ENST00000679427.1:n.2293del
ENST00000679435.1:c.4838+19del ENSP00000505218.1:n.4838+19del
ENST00000679516.1:c.4838+19del ENSP00000505187.1:n.4838+19del
ENST00000679618.1:c.*1926+19del ENSP00000506274.1:n.*1926+19del
ENST00000679630.1:n.6687+19del
ENST00000679635.1:n.2884del
ENST00000679686.1:n.4952+19del
ENST00000679701.1:n.7830+19del
ENST00000679916.1:c.*1186+19del ENSP00000506172.1:n.*1186+19del
ENST00000680000.1:c.4838+19del ENSP00000506173.1:n.4838+19del
ENST00000680135.1:c.*2799+19del ENSP00000506211.1:n.*2799+19del
ENST00000680149.1:c.*120+19del ENSP00000506497.1:n.*120+19del
ENST00000680163.1:c.4838+19del ENSP00000505092.1:n.4838+19del
ENST00000680174.1:n.5529+19del
ENST00000680236.1:c.*1899+19del ENSP00000506212.1:n.*1899+19del
ENST00000680404.1:n.353+19del
ENST00000680441.1:n.3396+19del
ENST00000680497.1:c.4940+19del ENSP00000505954.1:n.4940+19del
ENST00000680508.1:c.4835+19del ENSP00000505749.1:n.4835+19del
ENST00000680569.1:c.*2565del ENSP00000505522.1:n.*2565del
ENST00000680634.1:n.1346+19del
ENST00000680722.1:n.2638+19del
ENST00000680726.1:c.*120+19del ENSP00000505505.1:n.*120+19del
ENST00000680759.1:c.4670+19del ENSP00000505848.1:n.4670+19del
ENST00000680814.1:c.4838+19del ENSP00000505710.1:n.4838+19del
ENST00000680828.1:c.*2532+19del ENSP00000505249.1:n.*2532+19del
ENST00000680861.1:c.4838+19del ENSP00000505043.1:n.4838+19del
ENST00000680927.1:c.*1018+19del ENSP00000505473.1:n.*1018+19del
ENST00000680939.1:n.6563del
ENST00000681250.1:c.*1555+19del ENSP00000505684.1:n.*1555+19del
ENST00000681256.1:c.*2853+19del ENSP00000505446.1:n.*2853+19del
ENST00000681279.1:n.5704+19del
ENST00000681307.1:n.5951+19del
ENST00000681461.1:n.5606+19del
ENST00000681495.1:c.2375+19del ENSP00000506085.1:n.2375+19del
ENST00000681558.1:c.2516+19del ENSP00000505568.1:n.2516+19del
ENST00000681619.1:c.4835+19del ENSP00000505071.1:n.4835+19del
ENST00000681663.1:n.1744+19del
ENST00000681692.1:n.2798+19del
ENST00000681716.1:c.*2692+19del ENSP00000505078.1:n.*2692+19del
ENST00000681768.1:c.*2502+19del ENSP00000506311.1:n.*2502+19del
ENST00000681808.1:c.4661+19del ENSP00000505219.1:n.4661+19del
XM_005246709.2:c.4835+19del XP_005246766.1:n.4835+19del
XM_006712654.1:c.4838+19del XP_006712717.1:n.4838+19del
XM_006712654.3:c.4838+19del XP_006712717.1:n.4838+19del
XM_006712655.2:c.2774+19del XP_006712718.1:n.2774+19del
XM_006712655.3:c.2774+19del XP_006712718.1:n.2774+19del
XM_011511530.1:c.4499+19del XP_011509832.1:n.4499+19del
XM_017004569.2:c.4835+19del XP_016860058.1:n.4835+19del
XM_017004572.2:c.2456+19del XP_016860061.1:n.2456+19del
XM_024453024.1:c.4499+19del XP_024308792.1:n.4499+19del
XM_024453025.1:c.2771+19del XP_024308793.1:n.2771+19del
XR_001738864.2:n.4953+19del
XR_001738865.2:n.4950+19del
XR_001738866.2:n.5116+19del
XR_001738867.2:n.5113+19del
XR_002959320.1:n.4009+19del
XR_922974.1:n.5116+19del