Canonical Allele Identifier: CA2662676736

Gene: ALS2

Linked Data

• gnomAD v4: 2-201724424-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201724425_201724426del , CM000664.2:g.201724425_201724426del	GRCh38
NC_000002.11:g.202589148_202589149del , CM000664.1:g.202589148_202589149del	GRCh37
NC_000002.10:g.202297393_202297394del	NCBI36
NG_008775.1:g.61747_61748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3381_3382del MANE Select	ENSP00000264276.6:p.Phe1127LeufsTer3
ENST00000439495.6:c.1059_1060del	ENSP00000403832.2:p.Phe353LeufsTer3
ENST00000482891.6:n.4149_4150del
ENST00000494017.6:n.1113_1114del
ENST00000679409.1:c.1059_1060del	ENSP00000506531.1:p.Phe353LeufsTer3
ENST00000679416.1:n.4885_4886del
ENST00000679435.1:c.3381_3382del	ENSP00000505218.1:p.Phe1127LeufsTer3
ENST00000679516.1:c.3381_3382del	ENSP00000505187.1:p.Phe1127LeufsTer3
ENST00000679618.1:c.*469_*470del	ENSP00000506274.1:n.*469_*470del
ENST00000679630.1:n.5230_5231del
ENST00000679686.1:n.3495_3496del
ENST00000679701.1:n.6373_6374del
ENST00000679916.1:c.3381_3382del	ENSP00000506172.1:p.Phe1127LeufsTer3
ENST00000680000.1:c.3381_3382del	ENSP00000506173.1:p.Phe1127LeufsTer3
ENST00000680135.1:c.*1345_*1346del	ENSP00000506211.1:n.*1345_*1346del
ENST00000680149.1:c.3381_3382del	ENSP00000506497.1:p.Phe1127LeufsTer3
ENST00000680163.1:c.3381_3382del	ENSP00000505092.1:p.Phe1127LeufsTer3
ENST00000680174.1:n.4072_4073del
ENST00000680236.1:c.*442_*443del	ENSP00000506212.1:n.*442_*443del
ENST00000680497.1:c.3483_3484del	ENSP00000505954.1:p.Phe1161LeufsTer3
ENST00000680508.1:c.3381_3382del	ENSP00000505749.1:p.Phe1127LeufsTer3
ENST00000680569.1:c.*1092_*1093del	ENSP00000505522.1:n.*1092_*1093del
ENST00000680630.1:n.3813_3814del
ENST00000680634.1:n.21-3937_21-3936del
ENST00000680722.1:n.1181_1182del
ENST00000680723.1:n.4164_4165del
ENST00000680726.1:c.3381_3382del	ENSP00000505505.1:p.Phe1127LeufsTer3
ENST00000680737.1:n.3652_3653del
ENST00000680759.1:c.3381_3382del	ENSP00000505848.1:p.Phe1127LeufsTer3
ENST00000680814.1:c.3381_3382del	ENSP00000505710.1:p.Phe1127LeufsTer3
ENST00000680828.1:c.*953_*954del	ENSP00000505249.1:n.*953_*954del
ENST00000680861.1:c.3381_3382del	ENSP00000505043.1:p.Phe1127LeufsTer3
ENST00000680927.1:c.3381_3382del	ENSP00000505473.1:p.Phe1127LeufsTer3
ENST00000680939.1:n.3723_3724del
ENST00000681152.1:c.3381_3382del	ENSP00000505388.1:p.Phe1127LeufsTer3
ENST00000681250.1:c.*98_*99del	ENSP00000505684.1:n.*98_*99del
ENST00000681256.1:c.*1399_*1400del	ENSP00000505446.1:n.*1399_*1400del
ENST00000681279.1:n.4149_4150del
ENST00000681303.1:c.3381_3382del	ENSP00000505576.1:p.Phe1127LeufsTer3
ENST00000681307.1:n.4494_4495del
ENST00000681461.1:n.4149_4150del
ENST00000681495.1:c.921_922del	ENSP00000506085.1:p.Phe307LeufsTer3
ENST00000681558.1:c.1059_1060del	ENSP00000505568.1:p.Phe353LeufsTer3
ENST00000681619.1:c.3381_3382del	ENSP00000505071.1:p.Phe1127LeufsTer3
ENST00000681716.1:c.*1092_*1093del	ENSP00000505078.1:n.*1092_*1093del
ENST00000681758.1:n.3723_3724del
ENST00000681768.1:c.*1045_*1046del	ENSP00000506311.1:n.*1045_*1046del
ENST00000681808.1:c.3381_3382del	ENSP00000505219.1:p.Phe1127LeufsTer3
ENST00000264276.10:c.3381_3382del	ENSP00000264276.6:p.Phe1127LeufsTer3
ENST00000439495.5:c.1342_1343del
ENST00000482891.5:n.3521_3522del
ENST00000489440.5:n.202_203del
NM_020919.3:c.3381_3382del	NP_065970.2:p.Phe1127LeufsTer3
XM_005246709.2:c.3381_3382del	XP_005246766.1:p.Phe1127LeufsTer3
XM_006712654.1:c.3381_3382del	XP_006712717.1:p.Phe1127LeufsTer3
XM_006712655.2:c.1317_1318del	XP_006712718.1:p.Phe439LeufsTer3
XM_011511530.1:c.3042_3043del	XP_011509832.1:p.Phe1014LeufsTer3
XM_011511531.1:c.3381_3382del	XP_011509833.1:p.Phe1127LeufsTer3
XR_922974.1:n.3516_3517del
XM_006712654.3:c.3381_3382del	XP_006712717.1:p.Phe1127LeufsTer3
XM_006712655.3:c.1317_1318del	XP_006712718.1:p.Phe439LeufsTer3
XM_017004569.2:c.3381_3382del	XP_016860058.1:p.Phe1127LeufsTer3
XM_017004570.2:c.3381_3382del	XP_016860059.1:p.Phe1127LeufsTer3
XM_017004572.2:c.999_1000del	XP_016860061.1:p.Phe333LeufsTer3
XM_024453024.1:c.3042_3043del	XP_024308792.1:p.Phe1014LeufsTer3
XM_024453025.1:c.1317_1318del	XP_024308793.1:p.Phe439LeufsTer3
XR_001738864.2:n.3516_3517del
XR_001738865.2:n.3516_3517del
XR_001738866.2:n.3516_3517del
XR_001738867.2:n.3516_3517del
XR_002959320.1:n.2572_2573del
NM_020919.4:c.3381_3382del MANE Select	NP_065970.2:p.Phe1127LeufsTer3