Canonical Allele Identifier: CA1321181296

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201722838_201722841delinsGAGC , CM000664.2:g.201722838_201722841delinsGAGC	GRCh38
NC_000002.11:g.202587561_202587564delinsGAGC , CM000664.1:g.202587561_202587564delinsGAGC	GRCh37
NC_000002.10:g.202295806_202295809delinsGAGC	NCBI36
NG_008775.1:g.63332_63335delinsGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3702+202_3702+205delinsGCTC MANE Select	ENSP00000264276.6:n.3702+202_3702+205delinsGCTC
ENST00000439495.6:c.1380+202_1380+205delinsGCTC	ENSP00000403832.2:n.1380+202_1380+205delinsGCTC
ENST00000482891.6:n.4672_4675delinsGCTC
ENST00000494017.6:n.1636_1639delinsGCTC
ENST00000679409.1:c.1380+202_1380+205delinsGCTC	ENSP00000506531.1:n.1380+202_1380+205delinsGCTC
ENST00000679416.1:n.5206+202_5206+205delinsGCTC
ENST00000679435.1:c.3702+202_3702+205delinsGCTC	ENSP00000505218.1:n.3702+202_3702+205delinsGCTC
ENST00000679516.1:c.3702+202_3702+205delinsGCTC	ENSP00000505187.1:n.3702+202_3702+205delinsGCTC
ENST00000679618.1:c.*790+202_*790+205delinsGCTC	ENSP00000506274.1:n.*790+202_*790+205delinsGCTC
ENST00000679630.1:n.5551+202_5551+205delinsGCTC
ENST00000679686.1:n.3816+202_3816+205delinsGCTC
ENST00000679701.1:n.6694+202_6694+205delinsGCTC
ENST00000679916.1:c.3702+202_3702+205delinsGCTC	ENSP00000506172.1:n.3702+202_3702+205delinsGCTC
ENST00000680000.1:c.3702+202_3702+205delinsGCTC	ENSP00000506173.1:n.3702+202_3702+205delinsGCTC
ENST00000680135.1:c.*1666+202_*1666+205delinsGCTC	ENSP00000506211.1:n.*1666+202_*1666+205delinsGCTC
ENST00000680149.1:c.3702+202_3702+205delinsGCTC	ENSP00000506497.1:n.3702+202_3702+205delinsGCTC
ENST00000680163.1:c.3702+202_3702+205delinsGCTC	ENSP00000505092.1:n.3702+202_3702+205delinsGCTC
ENST00000680174.1:n.4393+202_4393+205delinsGCTC
ENST00000680236.1:c.*763+202_*763+205delinsGCTC	ENSP00000506212.1:n.*763+202_*763+205delinsGCTC
ENST00000680497.1:c.3804+202_3804+205delinsGCTC	ENSP00000505954.1:n.3804+202_3804+205delinsGCTC
ENST00000680508.1:c.3702+202_3702+205delinsGCTC	ENSP00000505749.1:n.3702+202_3702+205delinsGCTC
ENST00000680569.1:c.*1413+202_*1413+205delinsGCTC	ENSP00000505522.1:n.*1413+202_*1413+205delinsGCTC
ENST00000680630.1:n.4134+202_4134+205delinsGCTC
ENST00000680634.1:n.21-2352_21-2349delinsGCTC
ENST00000680722.1:n.1502+202_1502+205delinsGCTC
ENST00000680723.1:n.4687_4690delinsGCTC
ENST00000680726.1:c.3702+202_3702+205delinsGCTC	ENSP00000505505.1:n.3702+202_3702+205delinsGCTC
ENST00000680737.1:n.3973+202_3973+205delinsGCTC
ENST00000680759.1:c.3702+202_3702+205delinsGCTC	ENSP00000505848.1:n.3702+202_3702+205delinsGCTC
ENST00000680814.1:c.3702+202_3702+205delinsGCTC	ENSP00000505710.1:n.3702+202_3702+205delinsGCTC
ENST00000680828.1:c.*1274+202_*1274+205delinsGCTC	ENSP00000505249.1:n.*1274+202_*1274+205delinsGCTC
ENST00000680861.1:c.3702+202_3702+205delinsGCTC	ENSP00000505043.1:n.3702+202_3702+205delinsGCTC
ENST00000680927.1:c.3702+202_3702+205delinsGCTC	ENSP00000505473.1:n.3702+202_3702+205delinsGCTC
ENST00000680939.1:n.4044+202_4044+205delinsGCTC
ENST00000681152.1:c.*190_*193delinsGCTC	ENSP00000505388.1:n.*190_*193delinsGCTC
ENST00000681250.1:c.*419+202_*419+205delinsGCTC	ENSP00000505684.1:n.*419+202_*419+205delinsGCTC
ENST00000681256.1:c.*1720+202_*1720+205delinsGCTC	ENSP00000505446.1:n.*1720+202_*1720+205delinsGCTC
ENST00000681279.1:n.4470+202_4470+205delinsGCTC
ENST00000681303.1:c.*190_*193delinsGCTC	ENSP00000505576.1:n.*190_*193delinsGCTC
ENST00000681307.1:n.4815+202_4815+205delinsGCTC
ENST00000681461.1:n.4470+202_4470+205delinsGCTC
ENST00000681495.1:c.1242+202_1242+205delinsGCTC	ENSP00000506085.1:n.1242+202_1242+205delinsGCTC
ENST00000681558.1:c.1380+202_1380+205delinsGCTC	ENSP00000505568.1:n.1380+202_1380+205delinsGCTC
ENST00000681619.1:c.3702+202_3702+205delinsGCTC	ENSP00000505071.1:n.3702+202_3702+205delinsGCTC
ENST00000681716.1:c.*1413+202_*1413+205delinsGCTC	ENSP00000505078.1:n.*1413+202_*1413+205delinsGCTC
ENST00000681758.1:n.4044+202_4044+205delinsGCTC
ENST00000681768.1:c.*1366+202_*1366+205delinsGCTC	ENSP00000506311.1:n.*1366+202_*1366+205delinsGCTC
ENST00000681808.1:c.3702+202_3702+205delinsGCTC	ENSP00000505219.1:n.3702+202_3702+205delinsGCTC
ENST00000264276.10:c.3702+202_3702+205delinsGCTC	ENSP00000264276.6:n.3702+202_3702+205delinsGCTC
ENST00000439495.5:c.1663+202_1663+205delinsGCTC
ENST00000482891.5:n.4044_4047delinsGCTC
ENST00000489440.5:n.523+202_523+205delinsGCTC
NM_020919.3:c.3702+202_3702+205delinsGCTC	NP_065970.2:n.3702+202_3702+205delinsGCTC
XM_005246709.2:c.3702+202_3702+205delinsGCTC	XP_005246766.1:n.3702+202_3702+205delinsGCTC
XM_006712654.1:c.3702+202_3702+205delinsGCTC	XP_006712717.1:n.3702+202_3702+205delinsGCTC
XM_006712655.2:c.1638+202_1638+205delinsGCTC	XP_006712718.1:n.1638+202_1638+205delinsGCTC
XM_011511530.1:c.3363+202_3363+205delinsGCTC	XP_011509832.1:n.3363+202_3363+205delinsGCTC
XM_011511531.1:c.3702+202_3702+205delinsGCTC	XP_011509833.1:n.3702+202_3702+205delinsGCTC
XR_922974.1:n.3837+202_3837+205delinsGCTC
XM_006712654.3:c.3702+202_3702+205delinsGCTC	XP_006712717.1:n.3702+202_3702+205delinsGCTC
XM_006712655.3:c.1638+202_1638+205delinsGCTC	XP_006712718.1:n.1638+202_1638+205delinsGCTC
XM_017004569.2:c.3702+202_3702+205delinsGCTC	XP_016860058.1:n.3702+202_3702+205delinsGCTC
XM_017004570.2:c.3702+202_3702+205delinsGCTC	XP_016860059.1:n.3702+202_3702+205delinsGCTC
XM_017004572.2:c.1320+202_1320+205delinsGCTC	XP_016860061.1:n.1320+202_1320+205delinsGCTC
XM_024453024.1:c.3363+202_3363+205delinsGCTC	XP_024308792.1:n.3363+202_3363+205delinsGCTC
XM_024453025.1:c.1638+202_1638+205delinsGCTC	XP_024308793.1:n.1638+202_1638+205delinsGCTC
XR_001738864.2:n.3837+202_3837+205delinsGCTC
XR_001738865.2:n.3837+202_3837+205delinsGCTC
XR_001738866.2:n.3837+202_3837+205delinsGCTC
XR_001738867.2:n.3837+202_3837+205delinsGCTC
XR_002959320.1:n.2893+202_2893+205delinsGCTC
NM_020919.4:c.3702+202_3702+205delinsGCTC MANE Select	NP_065970.2:n.3702+202_3702+205delinsGCTC