Canonical Allele Identifier: CA1321181287

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201722819_201722820delinsGA , CM000664.2:g.201722819_201722820delinsGA	GRCh38
NC_000002.11:g.202587542_202587543delinsGA , CM000664.1:g.202587542_202587543delinsGA	GRCh37
NC_000002.10:g.202295787_202295788delinsGA	NCBI36
NG_008775.1:g.63353_63354delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3702+223_3702+224delinsTC MANE Select	ENSP00000264276.6:n.3702+223_3702+224delinsTC
ENST00000439495.6:c.1380+223_1380+224delinsTC	ENSP00000403832.2:n.1380+223_1380+224delinsTC
ENST00000482891.6:n.4693_4694delinsTC
ENST00000494017.6:n.1657_1658delinsTC
ENST00000679409.1:c.1380+223_1380+224delinsTC	ENSP00000506531.1:n.1380+223_1380+224delinsTC
ENST00000679416.1:n.5206+223_5206+224delinsTC
ENST00000679435.1:c.3702+223_3702+224delinsTC	ENSP00000505218.1:n.3702+223_3702+224delinsTC
ENST00000679516.1:c.3702+223_3702+224delinsTC	ENSP00000505187.1:n.3702+223_3702+224delinsTC
ENST00000679618.1:c.*790+223_*790+224delinsTC	ENSP00000506274.1:n.*790+223_*790+224delinsTC
ENST00000679630.1:n.5551+223_5551+224delinsTC
ENST00000679686.1:n.3816+223_3816+224delinsTC
ENST00000679701.1:n.6694+223_6694+224delinsTC
ENST00000679916.1:c.3702+223_3702+224delinsTC	ENSP00000506172.1:n.3702+223_3702+224delinsTC
ENST00000680000.1:c.3702+223_3702+224delinsTC	ENSP00000506173.1:n.3702+223_3702+224delinsTC
ENST00000680135.1:c.*1666+223_*1666+224delinsTC	ENSP00000506211.1:n.*1666+223_*1666+224delinsTC
ENST00000680149.1:c.3702+223_3702+224delinsTC	ENSP00000506497.1:n.3702+223_3702+224delinsTC
ENST00000680163.1:c.3702+223_3702+224delinsTC	ENSP00000505092.1:n.3702+223_3702+224delinsTC
ENST00000680174.1:n.4393+223_4393+224delinsTC
ENST00000680236.1:c.*763+223_*763+224delinsTC	ENSP00000506212.1:n.*763+223_*763+224delinsTC
ENST00000680497.1:c.3804+223_3804+224delinsTC	ENSP00000505954.1:n.3804+223_3804+224delinsTC
ENST00000680508.1:c.3702+223_3702+224delinsTC	ENSP00000505749.1:n.3702+223_3702+224delinsTC
ENST00000680569.1:c.*1413+223_*1413+224delinsTC	ENSP00000505522.1:n.*1413+223_*1413+224delinsTC
ENST00000680630.1:n.4134+223_4134+224delinsTC
ENST00000680634.1:n.21-2331_21-2330delinsTC
ENST00000680722.1:n.1502+223_1502+224delinsTC
ENST00000680723.1:n.4708_4709delinsTC
ENST00000680726.1:c.3702+223_3702+224delinsTC	ENSP00000505505.1:n.3702+223_3702+224delinsTC
ENST00000680737.1:n.3973+223_3973+224delinsTC
ENST00000680759.1:c.3702+223_3702+224delinsTC	ENSP00000505848.1:n.3702+223_3702+224delinsTC
ENST00000680814.1:c.3702+223_3702+224delinsTC	ENSP00000505710.1:n.3702+223_3702+224delinsTC
ENST00000680828.1:c.*1274+223_*1274+224delinsTC	ENSP00000505249.1:n.*1274+223_*1274+224delinsTC
ENST00000680861.1:c.3702+223_3702+224delinsTC	ENSP00000505043.1:n.3702+223_3702+224delinsTC
ENST00000680927.1:c.3702+223_3702+224delinsTC	ENSP00000505473.1:n.3702+223_3702+224delinsTC
ENST00000680939.1:n.4044+223_4044+224delinsTC
ENST00000681152.1:c.*211_*212delinsTC	ENSP00000505388.1:n.*211_*212delinsTC
ENST00000681250.1:c.*419+223_*419+224delinsTC	ENSP00000505684.1:n.*419+223_*419+224delinsTC
ENST00000681256.1:c.*1720+223_*1720+224delinsTC	ENSP00000505446.1:n.*1720+223_*1720+224delinsTC
ENST00000681279.1:n.4470+223_4470+224delinsTC
ENST00000681303.1:c.*211_*212delinsTC	ENSP00000505576.1:n.*211_*212delinsTC
ENST00000681307.1:n.4815+223_4815+224delinsTC
ENST00000681461.1:n.4470+223_4470+224delinsTC
ENST00000681495.1:c.1242+223_1242+224delinsTC	ENSP00000506085.1:n.1242+223_1242+224delinsTC
ENST00000681558.1:c.1380+223_1380+224delinsTC	ENSP00000505568.1:n.1380+223_1380+224delinsTC
ENST00000681619.1:c.3702+223_3702+224delinsTC	ENSP00000505071.1:n.3702+223_3702+224delinsTC
ENST00000681716.1:c.*1413+223_*1413+224delinsTC	ENSP00000505078.1:n.*1413+223_*1413+224delinsTC
ENST00000681758.1:n.4044+223_4044+224delinsTC
ENST00000681768.1:c.*1366+223_*1366+224delinsTC	ENSP00000506311.1:n.*1366+223_*1366+224delinsTC
ENST00000681808.1:c.3702+223_3702+224delinsTC	ENSP00000505219.1:n.3702+223_3702+224delinsTC
ENST00000264276.10:c.3702+223_3702+224delinsTC	ENSP00000264276.6:n.3702+223_3702+224delinsTC
ENST00000439495.5:c.1663+223_1663+224delinsTC
ENST00000482891.5:n.4065_4066delinsTC
ENST00000489440.5:n.523+223_523+224delinsTC
NM_020919.3:c.3702+223_3702+224delinsTC	NP_065970.2:n.3702+223_3702+224delinsTC
XM_005246709.2:c.3702+223_3702+224delinsTC	XP_005246766.1:n.3702+223_3702+224delinsTC
XM_006712654.1:c.3702+223_3702+224delinsTC	XP_006712717.1:n.3702+223_3702+224delinsTC
XM_006712655.2:c.1638+223_1638+224delinsTC	XP_006712718.1:n.1638+223_1638+224delinsTC
XM_011511530.1:c.3363+223_3363+224delinsTC	XP_011509832.1:n.3363+223_3363+224delinsTC
XM_011511531.1:c.3702+223_3702+224delinsTC	XP_011509833.1:n.3702+223_3702+224delinsTC
XR_922974.1:n.3837+223_3837+224delinsTC
XM_006712654.3:c.3702+223_3702+224delinsTC	XP_006712717.1:n.3702+223_3702+224delinsTC
XM_006712655.3:c.1638+223_1638+224delinsTC	XP_006712718.1:n.1638+223_1638+224delinsTC
XM_017004569.2:c.3702+223_3702+224delinsTC	XP_016860058.1:n.3702+223_3702+224delinsTC
XM_017004570.2:c.3702+223_3702+224delinsTC	XP_016860059.1:n.3702+223_3702+224delinsTC
XM_017004572.2:c.1320+223_1320+224delinsTC	XP_016860061.1:n.1320+223_1320+224delinsTC
XM_024453024.1:c.3363+223_3363+224delinsTC	XP_024308792.1:n.3363+223_3363+224delinsTC
XM_024453025.1:c.1638+223_1638+224delinsTC	XP_024308793.1:n.1638+223_1638+224delinsTC
XR_001738864.2:n.3837+223_3837+224delinsTC
XR_001738865.2:n.3837+223_3837+224delinsTC
XR_001738866.2:n.3837+223_3837+224delinsTC
XR_001738867.2:n.3837+223_3837+224delinsTC
XR_002959320.1:n.2893+223_2893+224delinsTC
NM_020919.4:c.3702+223_3702+224delinsTC MANE Select	NP_065970.2:n.3702+223_3702+224delinsTC