Canonical Allele Identifier: CA2586965522
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201723052_201723053del , CM000664.2:g.201723052_201723053del GRCh38
NC_000002.11:g.202587775_202587776del , CM000664.1:g.202587775_202587776del GRCh37
NC_000002.10:g.202296020_202296021del NCBI36
NG_008775.1:g.63120_63121del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.3692_3693del MANE Select ENSP00000264276.6:p.Leu1231GlnfsTer15
ENST00000439495.6:c.1370_1371del ENSP00000403832.2:p.Leu457GlnfsTer15
ENST00000482891.6:n.4460_4461del
ENST00000494017.6:n.1424_1425del
ENST00000679409.1:c.1370_1371del ENSP00000506531.1:p.Leu457GlnfsTer5
ENST00000679416.1:n.5196_5197del
ENST00000679435.1:c.3692_3693del ENSP00000505218.1:p.Leu1231GlnfsTer15
ENST00000679516.1:c.3692_3693del ENSP00000505187.1:p.Leu1231GlnfsTer15
ENST00000679618.1:c.*780_*781del ENSP00000506274.1:n.*780_*781del
ENST00000679630.1:n.5541_5542del
ENST00000679686.1:n.3806_3807del
ENST00000679701.1:n.6684_6685del
ENST00000679916.1:c.3692_3693del ENSP00000506172.1:p.Leu1231GlnfsTer5
ENST00000680000.1:c.3692_3693del ENSP00000506173.1:p.Leu1231GlnfsTer15
ENST00000680135.1:c.*1656_*1657del ENSP00000506211.1:n.*1656_*1657del
ENST00000680149.1:c.3692_3693del ENSP00000506497.1:p.Leu1231GlnfsTer15
ENST00000680163.1:c.3692_3693del ENSP00000505092.1:p.Leu1231GlnfsTer15
ENST00000680174.1:n.4383_4384del
ENST00000680236.1:c.*753_*754del ENSP00000506212.1:n.*753_*754del
ENST00000680497.1:c.3794_3795del ENSP00000505954.1:p.Leu1265GlnfsTer15
ENST00000680508.1:c.3692_3693del ENSP00000505749.1:p.Leu1231GlnfsTer15
ENST00000680569.1:c.*1403_*1404del ENSP00000505522.1:n.*1403_*1404del
ENST00000680630.1:n.4124_4125del
ENST00000680634.1:n.21-2564_21-2563del
ENST00000680722.1:n.1492_1493del
ENST00000680723.1:n.4475_4476del
ENST00000680726.1:c.3692_3693del ENSP00000505505.1:p.Leu1231GlnfsTer15
ENST00000680737.1:n.3963_3964del
ENST00000680759.1:c.3692_3693del ENSP00000505848.1:p.Leu1231GlnfsTer15
ENST00000680814.1:c.3692_3693del ENSP00000505710.1:p.Leu1231GlnfsTer15
ENST00000680828.1:c.*1264_*1265del ENSP00000505249.1:n.*1264_*1265del
ENST00000680861.1:c.3692_3693del ENSP00000505043.1:p.Leu1231GlnfsTer15
ENST00000680927.1:c.3692_3693del ENSP00000505473.1:p.Leu1231GlnfsTer15
ENST00000680939.1:n.4034_4035del
ENST00000681152.1:c.3692_3693del ENSP00000505388.1:p.Leu1231GlnfsTer20
ENST00000681250.1:c.*409_*410del ENSP00000505684.1:n.*409_*410del
ENST00000681256.1:c.*1710_*1711del ENSP00000505446.1:n.*1710_*1711del
ENST00000681279.1:n.4460_4461del
ENST00000681303.1:c.3692_3693del ENSP00000505576.1:p.Leu1231GlnfsTer20
ENST00000681307.1:n.4805_4806del
ENST00000681461.1:n.4460_4461del
ENST00000681495.1:c.1232_1233del ENSP00000506085.1:p.Leu411GlnfsTer15
ENST00000681558.1:c.1370_1371del ENSP00000505568.1:p.Leu457GlnfsTer15
ENST00000681619.1:c.3692_3693del ENSP00000505071.1:p.Leu1231GlnfsTer15
ENST00000681716.1:c.*1403_*1404del ENSP00000505078.1:n.*1403_*1404del
ENST00000681758.1:n.4034_4035del
ENST00000681768.1:c.*1356_*1357del ENSP00000506311.1:n.*1356_*1357del
ENST00000681808.1:c.3692_3693del ENSP00000505219.1:p.Leu1231GlnfsTer15
ENST00000264276.10:c.3692_3693del ENSP00000264276.6:p.Leu1231GlnfsTer15
ENST00000439495.5:c.1653_1654del
ENST00000482891.5:n.3832_3833del
ENST00000489440.5:n.513_514del
NM_020919.3:c.3692_3693del NP_065970.2:p.Leu1231GlnfsTer15
XM_005246709.2:c.3692_3693del XP_005246766.1:p.Leu1231GlnfsTer15
XM_006712654.1:c.3692_3693del XP_006712717.1:p.Leu1231GlnfsTer15
XM_006712655.2:c.1628_1629del XP_006712718.1:p.Leu543GlnfsTer15
XM_011511530.1:c.3353_3354del XP_011509832.1:p.Leu1118GlnfsTer15
XM_011511531.1:c.3692_3693del XP_011509833.1:p.Leu1231GlnfsTer15
XR_922974.1:n.3827_3828del
XM_006712654.3:c.3692_3693del XP_006712717.1:p.Leu1231GlnfsTer15
XM_006712655.3:c.1628_1629del XP_006712718.1:p.Leu543GlnfsTer15
XM_017004569.2:c.3692_3693del XP_016860058.1:p.Leu1231GlnfsTer15
XM_017004570.2:c.3692_3693del XP_016860059.1:p.Leu1231GlnfsTer15
XM_017004572.2:c.1310_1311del XP_016860061.1:p.Leu437GlnfsTer15
XM_024453024.1:c.3353_3354del XP_024308792.1:p.Leu1118GlnfsTer15
XM_024453025.1:c.1628_1629del XP_024308793.1:p.Leu543GlnfsTer15
XR_001738864.2:n.3827_3828del
XR_001738865.2:n.3827_3828del
XR_001738866.2:n.3827_3828del
XR_001738867.2:n.3827_3828del
XR_002959320.1:n.2883_2884del
NM_020919.4:c.3692_3693del MANE Select NP_065970.2:p.Leu1231GlnfsTer15