Canonical Allele Identifier: CA2662676308

Gene: ALS2

Linked Data

• gnomAD v4: 2-201722885-TGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201722894_201722896del , CM000664.2:g.201722894_201722896del	GRCh38
NC_000002.11:g.202587617_202587619del , CM000664.1:g.202587617_202587619del	GRCh37
NC_000002.10:g.202295862_202295864del	NCBI36
NG_008775.1:g.63285_63287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3702+155_3702+157del MANE Select	ENSP00000264276.6:n.3702+155_3702+157del
ENST00000439495.6:c.1380+155_1380+157del	ENSP00000403832.2:n.1380+155_1380+157del
ENST00000482891.6:n.4625_4627del
ENST00000494017.6:n.1589_1591del
ENST00000679409.1:c.1380+155_1380+157del	ENSP00000506531.1:n.1380+155_1380+157del
ENST00000679416.1:n.5206+155_5206+157del
ENST00000679435.1:c.3702+155_3702+157del	ENSP00000505218.1:n.3702+155_3702+157del
ENST00000679516.1:c.3702+155_3702+157del	ENSP00000505187.1:n.3702+155_3702+157del
ENST00000679618.1:c.*790+155_*790+157del	ENSP00000506274.1:n.*790+155_*790+157del
ENST00000679630.1:n.5551+155_5551+157del
ENST00000679686.1:n.3816+155_3816+157del
ENST00000679701.1:n.6694+155_6694+157del
ENST00000679916.1:c.3702+155_3702+157del	ENSP00000506172.1:n.3702+155_3702+157del
ENST00000680000.1:c.3702+155_3702+157del	ENSP00000506173.1:n.3702+155_3702+157del
ENST00000680135.1:c.*1666+155_*1666+157del	ENSP00000506211.1:n.*1666+155_*1666+157del
ENST00000680149.1:c.3702+155_3702+157del	ENSP00000506497.1:n.3702+155_3702+157del
ENST00000680163.1:c.3702+155_3702+157del	ENSP00000505092.1:n.3702+155_3702+157del
ENST00000680174.1:n.4393+155_4393+157del
ENST00000680236.1:c.*763+155_*763+157del	ENSP00000506212.1:n.*763+155_*763+157del
ENST00000680497.1:c.3804+155_3804+157del	ENSP00000505954.1:n.3804+155_3804+157del
ENST00000680508.1:c.3702+155_3702+157del	ENSP00000505749.1:n.3702+155_3702+157del
ENST00000680569.1:c.*1413+155_*1413+157del	ENSP00000505522.1:n.*1413+155_*1413+157del
ENST00000680630.1:n.4134+155_4134+157del
ENST00000680634.1:n.21-2399_21-2397del
ENST00000680722.1:n.1502+155_1502+157del
ENST00000680723.1:n.4640_4642del
ENST00000680726.1:c.3702+155_3702+157del	ENSP00000505505.1:n.3702+155_3702+157del
ENST00000680737.1:n.3973+155_3973+157del
ENST00000680759.1:c.3702+155_3702+157del	ENSP00000505848.1:n.3702+155_3702+157del
ENST00000680814.1:c.3702+155_3702+157del	ENSP00000505710.1:n.3702+155_3702+157del
ENST00000680828.1:c.*1274+155_*1274+157del	ENSP00000505249.1:n.*1274+155_*1274+157del
ENST00000680861.1:c.3702+155_3702+157del	ENSP00000505043.1:n.3702+155_3702+157del
ENST00000680927.1:c.3702+155_3702+157del	ENSP00000505473.1:n.3702+155_3702+157del
ENST00000680939.1:n.4044+155_4044+157del
ENST00000681152.1:c.*143_*145del	ENSP00000505388.1:n.*143_*145del
ENST00000681250.1:c.*419+155_*419+157del	ENSP00000505684.1:n.*419+155_*419+157del
ENST00000681256.1:c.*1720+155_*1720+157del	ENSP00000505446.1:n.*1720+155_*1720+157del
ENST00000681279.1:n.4470+155_4470+157del
ENST00000681303.1:c.*143_*145del	ENSP00000505576.1:n.*143_*145del
ENST00000681307.1:n.4815+155_4815+157del
ENST00000681461.1:n.4470+155_4470+157del
ENST00000681495.1:c.1242+155_1242+157del	ENSP00000506085.1:n.1242+155_1242+157del
ENST00000681558.1:c.1380+155_1380+157del	ENSP00000505568.1:n.1380+155_1380+157del
ENST00000681619.1:c.3702+155_3702+157del	ENSP00000505071.1:n.3702+155_3702+157del
ENST00000681716.1:c.*1413+155_*1413+157del	ENSP00000505078.1:n.*1413+155_*1413+157del
ENST00000681758.1:n.4044+155_4044+157del
ENST00000681768.1:c.*1366+155_*1366+157del	ENSP00000506311.1:n.*1366+155_*1366+157del
ENST00000681808.1:c.3702+155_3702+157del	ENSP00000505219.1:n.3702+155_3702+157del
ENST00000264276.10:c.3702+155_3702+157del	ENSP00000264276.6:n.3702+155_3702+157del
ENST00000439495.5:c.1663+155_1663+157del
ENST00000482891.5:n.3997_3999del
ENST00000489440.5:n.523+155_523+157del
NM_020919.3:c.3702+155_3702+157del	NP_065970.2:n.3702+155_3702+157del
XM_005246709.2:c.3702+155_3702+157del	XP_005246766.1:n.3702+155_3702+157del
XM_006712654.1:c.3702+155_3702+157del	XP_006712717.1:n.3702+155_3702+157del
XM_006712655.2:c.1638+155_1638+157del	XP_006712718.1:n.1638+155_1638+157del
XM_011511530.1:c.3363+155_3363+157del	XP_011509832.1:n.3363+155_3363+157del
XM_011511531.1:c.3702+155_3702+157del	XP_011509833.1:n.3702+155_3702+157del
XR_922974.1:n.3837+155_3837+157del
XM_006712654.3:c.3702+155_3702+157del	XP_006712717.1:n.3702+155_3702+157del
XM_006712655.3:c.1638+155_1638+157del	XP_006712718.1:n.1638+155_1638+157del
XM_017004569.2:c.3702+155_3702+157del	XP_016860058.1:n.3702+155_3702+157del
XM_017004570.2:c.3702+155_3702+157del	XP_016860059.1:n.3702+155_3702+157del
XM_017004572.2:c.1320+155_1320+157del	XP_016860061.1:n.1320+155_1320+157del
XM_024453024.1:c.3363+155_3363+157del	XP_024308792.1:n.3363+155_3363+157del
XM_024453025.1:c.1638+155_1638+157del	XP_024308793.1:n.1638+155_1638+157del
XR_001738864.2:n.3837+155_3837+157del
XR_001738865.2:n.3837+155_3837+157del
XR_001738866.2:n.3837+155_3837+157del
XR_001738867.2:n.3837+155_3837+157del
XR_002959320.1:n.2893+155_2893+157del
NM_020919.4:c.3702+155_3702+157del MANE Select	NP_065970.2:n.3702+155_3702+157del