Canonical Allele Identifier: CA1321182209
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201723746_201723747delinsTA , CM000664.2:g.201723746_201723747delinsTA GRCh38
NC_000002.11:g.202588469_202588470delinsTA , CM000664.1:g.202588469_202588470delinsTA GRCh37
NC_000002.10:g.202296714_202296715delinsTA NCBI36
NG_008775.1:g.62426_62427delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.3513-306_3513-305delinsTA MANE Select ENSP00000264276.6:n.3513-306_3513-305delinsTA
ENST00000439495.6:c.1191-306_1191-305delinsTA ENSP00000403832.2:n.1191-306_1191-305delinsTA
ENST00000482891.6:n.4281-306_4281-305delinsTA
ENST00000494017.6:n.1245-306_1245-305delinsTA
ENST00000679409.1:c.1191-306_1191-305delinsTA ENSP00000506531.1:n.1191-306_1191-305delinsTA
ENST00000679416.1:n.5017-306_5017-305delinsTA
ENST00000679435.1:c.3513-306_3513-305delinsTA ENSP00000505218.1:n.3513-306_3513-305delinsTA
ENST00000679516.1:c.3513-306_3513-305delinsTA ENSP00000505187.1:n.3513-306_3513-305delinsTA
ENST00000679618.1:c.*601-306_*601-305delinsTA ENSP00000506274.1:n.*601-306_*601-305delinsTA
ENST00000679630.1:n.5362-306_5362-305delinsTA
ENST00000679686.1:n.3627-306_3627-305delinsTA
ENST00000679701.1:n.6505-306_6505-305delinsTA
ENST00000679916.1:c.3513-306_3513-305delinsTA ENSP00000506172.1:n.3513-306_3513-305delinsTA
ENST00000680000.1:c.3513-306_3513-305delinsTA ENSP00000506173.1:n.3513-306_3513-305delinsTA
ENST00000680135.1:c.*1477-306_*1477-305delinsTA ENSP00000506211.1:n.*1477-306_*1477-305delinsTA
ENST00000680149.1:c.3513-306_3513-305delinsTA ENSP00000506497.1:n.3513-306_3513-305delinsTA
ENST00000680163.1:c.3513-306_3513-305delinsTA ENSP00000505092.1:n.3513-306_3513-305delinsTA
ENST00000680174.1:n.4204-306_4204-305delinsTA
ENST00000680236.1:c.*574-306_*574-305delinsTA ENSP00000506212.1:n.*574-306_*574-305delinsTA
ENST00000680497.1:c.3615-306_3615-305delinsTA ENSP00000505954.1:n.3615-306_3615-305delinsTA
ENST00000680508.1:c.3513-306_3513-305delinsTA ENSP00000505749.1:n.3513-306_3513-305delinsTA
ENST00000680569.1:c.*1224-306_*1224-305delinsTA ENSP00000505522.1:n.*1224-306_*1224-305delinsTA
ENST00000680630.1:n.3945-306_3945-305delinsTA
ENST00000680634.1:n.21-3258_21-3257delinsTA
ENST00000680722.1:n.1313-306_1313-305delinsTA
ENST00000680723.1:n.4296-306_4296-305delinsTA
ENST00000680726.1:c.3513-306_3513-305delinsTA ENSP00000505505.1:n.3513-306_3513-305delinsTA
ENST00000680737.1:n.3784-306_3784-305delinsTA
ENST00000680759.1:c.3513-306_3513-305delinsTA ENSP00000505848.1:n.3513-306_3513-305delinsTA
ENST00000680814.1:c.3513-306_3513-305delinsTA ENSP00000505710.1:n.3513-306_3513-305delinsTA
ENST00000680828.1:c.*1085-306_*1085-305delinsTA ENSP00000505249.1:n.*1085-306_*1085-305delinsTA
ENST00000680861.1:c.3513-306_3513-305delinsTA ENSP00000505043.1:n.3513-306_3513-305delinsTA
ENST00000680927.1:c.3513-306_3513-305delinsTA ENSP00000505473.1:n.3513-306_3513-305delinsTA
ENST00000680939.1:n.3855-306_3855-305delinsTA
ENST00000681152.1:c.3513-306_3513-305delinsTA ENSP00000505388.1:n.3513-306_3513-305delinsTA
ENST00000681250.1:c.*230-306_*230-305delinsTA ENSP00000505684.1:n.*230-306_*230-305delinsTA
ENST00000681256.1:c.*1531-306_*1531-305delinsTA ENSP00000505446.1:n.*1531-306_*1531-305delinsTA
ENST00000681279.1:n.4281-306_4281-305delinsTA
ENST00000681303.1:c.3513-306_3513-305delinsTA ENSP00000505576.1:n.3513-306_3513-305delinsTA
ENST00000681307.1:n.4626-306_4626-305delinsTA
ENST00000681461.1:n.4281-306_4281-305delinsTA
ENST00000681495.1:c.1053-306_1053-305delinsTA ENSP00000506085.1:n.1053-306_1053-305delinsTA
ENST00000681558.1:c.1191-306_1191-305delinsTA ENSP00000505568.1:n.1191-306_1191-305delinsTA
ENST00000681619.1:c.3513-306_3513-305delinsTA ENSP00000505071.1:n.3513-306_3513-305delinsTA
ENST00000681716.1:c.*1224-306_*1224-305delinsTA ENSP00000505078.1:n.*1224-306_*1224-305delinsTA
ENST00000681758.1:n.3855-306_3855-305delinsTA
ENST00000681768.1:c.*1177-306_*1177-305delinsTA ENSP00000506311.1:n.*1177-306_*1177-305delinsTA
ENST00000681808.1:c.3513-306_3513-305delinsTA ENSP00000505219.1:n.3513-306_3513-305delinsTA
ENST00000264276.10:c.3513-306_3513-305delinsTA ENSP00000264276.6:n.3513-306_3513-305delinsTA
ENST00000439495.5:c.1474-306_1474-305delinsTA
ENST00000482891.5:n.3653-306_3653-305delinsTA
ENST00000489440.5:n.334-306_334-305delinsTA
NM_020919.3:c.3513-306_3513-305delinsTA NP_065970.2:n.3513-306_3513-305delinsTA
XM_005246709.2:c.3513-306_3513-305delinsTA XP_005246766.1:n.3513-306_3513-305delinsTA
XM_006712654.1:c.3513-306_3513-305delinsTA XP_006712717.1:n.3513-306_3513-305delinsTA
XM_006712655.2:c.1449-306_1449-305delinsTA XP_006712718.1:n.1449-306_1449-305delinsTA
XM_011511530.1:c.3174-306_3174-305delinsTA XP_011509832.1:n.3174-306_3174-305delinsTA
XM_011511531.1:c.3513-306_3513-305delinsTA XP_011509833.1:n.3513-306_3513-305delinsTA
XR_922974.1:n.3648-306_3648-305delinsTA
XM_006712654.3:c.3513-306_3513-305delinsTA XP_006712717.1:n.3513-306_3513-305delinsTA
XM_006712655.3:c.1449-306_1449-305delinsTA XP_006712718.1:n.1449-306_1449-305delinsTA
XM_017004569.2:c.3513-306_3513-305delinsTA XP_016860058.1:n.3513-306_3513-305delinsTA
XM_017004570.2:c.3513-306_3513-305delinsTA XP_016860059.1:n.3513-306_3513-305delinsTA
XM_017004572.2:c.1131-306_1131-305delinsTA XP_016860061.1:n.1131-306_1131-305delinsTA
XM_024453024.1:c.3174-306_3174-305delinsTA XP_024308792.1:n.3174-306_3174-305delinsTA
XM_024453025.1:c.1449-306_1449-305delinsTA XP_024308793.1:n.1449-306_1449-305delinsTA
XR_001738864.2:n.3648-306_3648-305delinsTA
XR_001738865.2:n.3648-306_3648-305delinsTA
XR_001738866.2:n.3648-306_3648-305delinsTA
XR_001738867.2:n.3648-306_3648-305delinsTA
XR_002959320.1:n.2704-306_2704-305delinsTA
NM_020919.4:c.3513-306_3513-305delinsTA MANE Select NP_065970.2:n.3513-306_3513-305delinsTA