Canonical Allele Identifier: CA2662676638
Gene: ALS2 HGNC NCBI

Linked Data

gnomAD v4: 2-201723569-A-AC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201723569_201723570insC , CM000664.2:g.201723569_201723570insC GRCh38
NC_000002.11:g.202588292_202588293insC , CM000664.1:g.202588292_202588293insC GRCh37
NC_000002.10:g.202296537_202296538insC NCBI36
NG_008775.1:g.62603_62604insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.3513-129_3513-128insG MANE Select ENSP00000264276.6:n.3513-129_3513-128insG
ENST00000439495.6:c.1191-129_1191-128insG ENSP00000403832.2:n.1191-129_1191-128insG
ENST00000482891.6:n.4281-129_4281-128insG
ENST00000494017.6:n.1245-129_1245-128insG
ENST00000679409.1:c.1191-129_1191-128insG ENSP00000506531.1:n.1191-129_1191-128insG
ENST00000679416.1:n.5017-129_5017-128insG
ENST00000679435.1:c.3513-129_3513-128insG ENSP00000505218.1:n.3513-129_3513-128insG
ENST00000679516.1:c.3513-129_3513-128insG ENSP00000505187.1:n.3513-129_3513-128insG
ENST00000679618.1:c.*601-129_*601-128insG ENSP00000506274.1:n.*601-129_*601-128insG
ENST00000679630.1:n.5362-129_5362-128insG
ENST00000679686.1:n.3627-129_3627-128insG
ENST00000679701.1:n.6505-129_6505-128insG
ENST00000679916.1:c.3513-129_3513-128insG ENSP00000506172.1:n.3513-129_3513-128insG
ENST00000680000.1:c.3513-129_3513-128insG ENSP00000506173.1:n.3513-129_3513-128insG
ENST00000680135.1:c.*1477-129_*1477-128insG ENSP00000506211.1:n.*1477-129_*1477-128insG
ENST00000680149.1:c.3513-129_3513-128insG ENSP00000506497.1:n.3513-129_3513-128insG
ENST00000680163.1:c.3513-129_3513-128insG ENSP00000505092.1:n.3513-129_3513-128insG
ENST00000680174.1:n.4204-129_4204-128insG
ENST00000680236.1:c.*574-129_*574-128insG ENSP00000506212.1:n.*574-129_*574-128insG
ENST00000680497.1:c.3615-129_3615-128insG ENSP00000505954.1:n.3615-129_3615-128insG
ENST00000680508.1:c.3513-129_3513-128insG ENSP00000505749.1:n.3513-129_3513-128insG
ENST00000680569.1:c.*1224-129_*1224-128insG ENSP00000505522.1:n.*1224-129_*1224-128insG
ENST00000680630.1:n.3945-129_3945-128insG
ENST00000680634.1:n.21-3081_21-3080insG
ENST00000680722.1:n.1313-129_1313-128insG
ENST00000680723.1:n.4296-129_4296-128insG
ENST00000680726.1:c.3513-129_3513-128insG ENSP00000505505.1:n.3513-129_3513-128insG
ENST00000680737.1:n.3784-129_3784-128insG
ENST00000680759.1:c.3513-129_3513-128insG ENSP00000505848.1:n.3513-129_3513-128insG
ENST00000680814.1:c.3513-129_3513-128insG ENSP00000505710.1:n.3513-129_3513-128insG
ENST00000680828.1:c.*1085-129_*1085-128insG ENSP00000505249.1:n.*1085-129_*1085-128insG
ENST00000680861.1:c.3513-129_3513-128insG ENSP00000505043.1:n.3513-129_3513-128insG
ENST00000680927.1:c.3513-129_3513-128insG ENSP00000505473.1:n.3513-129_3513-128insG
ENST00000680939.1:n.3855-129_3855-128insG
ENST00000681152.1:c.3513-129_3513-128insG ENSP00000505388.1:n.3513-129_3513-128insG
ENST00000681250.1:c.*230-129_*230-128insG ENSP00000505684.1:n.*230-129_*230-128insG
ENST00000681256.1:c.*1531-129_*1531-128insG ENSP00000505446.1:n.*1531-129_*1531-128insG
ENST00000681279.1:n.4281-129_4281-128insG
ENST00000681303.1:c.3513-129_3513-128insG ENSP00000505576.1:n.3513-129_3513-128insG
ENST00000681307.1:n.4626-129_4626-128insG
ENST00000681461.1:n.4281-129_4281-128insG
ENST00000681495.1:c.1053-129_1053-128insG ENSP00000506085.1:n.1053-129_1053-128insG
ENST00000681558.1:c.1191-129_1191-128insG ENSP00000505568.1:n.1191-129_1191-128insG
ENST00000681619.1:c.3513-129_3513-128insG ENSP00000505071.1:n.3513-129_3513-128insG
ENST00000681716.1:c.*1224-129_*1224-128insG ENSP00000505078.1:n.*1224-129_*1224-128insG
ENST00000681758.1:n.3855-129_3855-128insG
ENST00000681768.1:c.*1177-129_*1177-128insG ENSP00000506311.1:n.*1177-129_*1177-128insG
ENST00000681808.1:c.3513-129_3513-128insG ENSP00000505219.1:n.3513-129_3513-128insG
ENST00000264276.10:c.3513-129_3513-128insG ENSP00000264276.6:n.3513-129_3513-128insG
ENST00000439495.5:c.1474-129_1474-128insG
ENST00000482891.5:n.3653-129_3653-128insG
ENST00000489440.5:n.334-129_334-128insG
NM_020919.3:c.3513-129_3513-128insG NP_065970.2:n.3513-129_3513-128insG
XM_005246709.2:c.3513-129_3513-128insG XP_005246766.1:n.3513-129_3513-128insG
XM_006712654.1:c.3513-129_3513-128insG XP_006712717.1:n.3513-129_3513-128insG
XM_006712655.2:c.1449-129_1449-128insG XP_006712718.1:n.1449-129_1449-128insG
XM_011511530.1:c.3174-129_3174-128insG XP_011509832.1:n.3174-129_3174-128insG
XM_011511531.1:c.3513-129_3513-128insG XP_011509833.1:n.3513-129_3513-128insG
XR_922974.1:n.3648-129_3648-128insG
XM_006712654.3:c.3513-129_3513-128insG XP_006712717.1:n.3513-129_3513-128insG
XM_006712655.3:c.1449-129_1449-128insG XP_006712718.1:n.1449-129_1449-128insG
XM_017004569.2:c.3513-129_3513-128insG XP_016860058.1:n.3513-129_3513-128insG
XM_017004570.2:c.3513-129_3513-128insG XP_016860059.1:n.3513-129_3513-128insG
XM_017004572.2:c.1131-129_1131-128insG XP_016860061.1:n.1131-129_1131-128insG
XM_024453024.1:c.3174-129_3174-128insG XP_024308792.1:n.3174-129_3174-128insG
XM_024453025.1:c.1449-129_1449-128insG XP_024308793.1:n.1449-129_1449-128insG
XR_001738864.2:n.3648-129_3648-128insG
XR_001738865.2:n.3648-129_3648-128insG
XR_001738866.2:n.3648-129_3648-128insG
XR_001738867.2:n.3648-129_3648-128insG
XR_002959320.1:n.2704-129_2704-128insG
NM_020919.4:c.3513-129_3513-128insG MANE Select NP_065970.2:n.3513-129_3513-128insG
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