Canonical Allele Identifier: CA1321181385

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201722907_201722912delinsATGTTG , CM000664.2:g.201722907_201722912delinsATGTTG	GRCh38
NC_000002.11:g.202587630_202587635delinsATGTTG , CM000664.1:g.202587630_202587635delinsATGTTG	GRCh37
NC_000002.10:g.202295875_202295880delinsATGTTG	NCBI36
NG_008775.1:g.63261_63266delinsCAACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3702+131_3702+136delinsCAACAT MANE Select	ENSP00000264276.6:n.3702+131_3702+136delinsCAACAT
ENST00000439495.6:c.1380+131_1380+136delinsCAACAT	ENSP00000403832.2:n.1380+131_1380+136delinsCAACAT
ENST00000482891.6:n.4601_4606delinsCAACAT
ENST00000494017.6:n.1565_1570delinsCAACAT
ENST00000679409.1:c.1380+131_1380+136delinsCAACAT	ENSP00000506531.1:n.1380+131_1380+136delinsCAACAT
ENST00000679416.1:n.5206+131_5206+136delinsCAACAT
ENST00000679435.1:c.3702+131_3702+136delinsCAACAT	ENSP00000505218.1:n.3702+131_3702+136delinsCAACAT
ENST00000679516.1:c.3702+131_3702+136delinsCAACAT	ENSP00000505187.1:n.3702+131_3702+136delinsCAACAT
ENST00000679618.1:c.*790+131_*790+136delinsCAACAT	ENSP00000506274.1:n.*790+131_*790+136delinsCAACAT
ENST00000679630.1:n.5551+131_5551+136delinsCAACAT
ENST00000679686.1:n.3816+131_3816+136delinsCAACAT
ENST00000679701.1:n.6694+131_6694+136delinsCAACAT
ENST00000679916.1:c.3702+131_3702+136delinsCAACAT	ENSP00000506172.1:n.3702+131_3702+136delinsCAACAT
ENST00000680000.1:c.3702+131_3702+136delinsCAACAT	ENSP00000506173.1:n.3702+131_3702+136delinsCAACAT
ENST00000680135.1:c.*1666+131_*1666+136delinsCAACAT	ENSP00000506211.1:n.*1666+131_*1666+136delinsCAACAT
ENST00000680149.1:c.3702+131_3702+136delinsCAACAT	ENSP00000506497.1:n.3702+131_3702+136delinsCAACAT
ENST00000680163.1:c.3702+131_3702+136delinsCAACAT	ENSP00000505092.1:n.3702+131_3702+136delinsCAACAT
ENST00000680174.1:n.4393+131_4393+136delinsCAACAT
ENST00000680236.1:c.*763+131_*763+136delinsCAACAT	ENSP00000506212.1:n.*763+131_*763+136delinsCAACAT
ENST00000680497.1:c.3804+131_3804+136delinsCAACAT	ENSP00000505954.1:n.3804+131_3804+136delinsCAACAT
ENST00000680508.1:c.3702+131_3702+136delinsCAACAT	ENSP00000505749.1:n.3702+131_3702+136delinsCAACAT
ENST00000680569.1:c.*1413+131_*1413+136delinsCAACAT	ENSP00000505522.1:n.*1413+131_*1413+136delinsCAACAT
ENST00000680630.1:n.4134+131_4134+136delinsCAACAT
ENST00000680634.1:n.21-2423_21-2418delinsCAACAT
ENST00000680722.1:n.1502+131_1502+136delinsCAACAT
ENST00000680723.1:n.4616_4621delinsCAACAT
ENST00000680726.1:c.3702+131_3702+136delinsCAACAT	ENSP00000505505.1:n.3702+131_3702+136delinsCAACAT
ENST00000680737.1:n.3973+131_3973+136delinsCAACAT
ENST00000680759.1:c.3702+131_3702+136delinsCAACAT	ENSP00000505848.1:n.3702+131_3702+136delinsCAACAT
ENST00000680814.1:c.3702+131_3702+136delinsCAACAT	ENSP00000505710.1:n.3702+131_3702+136delinsCAACAT
ENST00000680828.1:c.*1274+131_*1274+136delinsCAACAT	ENSP00000505249.1:n.*1274+131_*1274+136delinsCAACAT
ENST00000680861.1:c.3702+131_3702+136delinsCAACAT	ENSP00000505043.1:n.3702+131_3702+136delinsCAACAT
ENST00000680927.1:c.3702+131_3702+136delinsCAACAT	ENSP00000505473.1:n.3702+131_3702+136delinsCAACAT
ENST00000680939.1:n.4044+131_4044+136delinsCAACAT
ENST00000681152.1:c.*119_*124delinsCAACAT	ENSP00000505388.1:n.*119_*124delinsCAACAT
ENST00000681250.1:c.*419+131_*419+136delinsCAACAT	ENSP00000505684.1:n.*419+131_*419+136delinsCAACAT
ENST00000681256.1:c.*1720+131_*1720+136delinsCAACAT	ENSP00000505446.1:n.*1720+131_*1720+136delinsCAACAT
ENST00000681279.1:n.4470+131_4470+136delinsCAACAT
ENST00000681303.1:c.*119_*124delinsCAACAT	ENSP00000505576.1:n.*119_*124delinsCAACAT
ENST00000681307.1:n.4815+131_4815+136delinsCAACAT
ENST00000681461.1:n.4470+131_4470+136delinsCAACAT
ENST00000681495.1:c.1242+131_1242+136delinsCAACAT	ENSP00000506085.1:n.1242+131_1242+136delinsCAACAT
ENST00000681558.1:c.1380+131_1380+136delinsCAACAT	ENSP00000505568.1:n.1380+131_1380+136delinsCAACAT
ENST00000681619.1:c.3702+131_3702+136delinsCAACAT	ENSP00000505071.1:n.3702+131_3702+136delinsCAACAT
ENST00000681716.1:c.*1413+131_*1413+136delinsCAACAT	ENSP00000505078.1:n.*1413+131_*1413+136delinsCAACAT
ENST00000681758.1:n.4044+131_4044+136delinsCAACAT
ENST00000681768.1:c.*1366+131_*1366+136delinsCAACAT	ENSP00000506311.1:n.*1366+131_*1366+136delinsCAACAT
ENST00000681808.1:c.3702+131_3702+136delinsCAACAT	ENSP00000505219.1:n.3702+131_3702+136delinsCAACAT
ENST00000264276.10:c.3702+131_3702+136delinsCAACAT	ENSP00000264276.6:n.3702+131_3702+136delinsCAACAT
ENST00000439495.5:c.1663+131_1663+136delinsCAACAT
ENST00000482891.5:n.3973_3978delinsCAACAT
ENST00000489440.5:n.523+131_523+136delinsCAACAT
NM_020919.3:c.3702+131_3702+136delinsCAACAT	NP_065970.2:n.3702+131_3702+136delinsCAACAT
XM_005246709.2:c.3702+131_3702+136delinsCAACAT	XP_005246766.1:n.3702+131_3702+136delinsCAACAT
XM_006712654.1:c.3702+131_3702+136delinsCAACAT	XP_006712717.1:n.3702+131_3702+136delinsCAACAT
XM_006712655.2:c.1638+131_1638+136delinsCAACAT	XP_006712718.1:n.1638+131_1638+136delinsCAACAT
XM_011511530.1:c.3363+131_3363+136delinsCAACAT	XP_011509832.1:n.3363+131_3363+136delinsCAACAT
XM_011511531.1:c.3702+131_3702+136delinsCAACAT	XP_011509833.1:n.3702+131_3702+136delinsCAACAT
XR_922974.1:n.3837+131_3837+136delinsCAACAT
XM_006712654.3:c.3702+131_3702+136delinsCAACAT	XP_006712717.1:n.3702+131_3702+136delinsCAACAT
XM_006712655.3:c.1638+131_1638+136delinsCAACAT	XP_006712718.1:n.1638+131_1638+136delinsCAACAT
XM_017004569.2:c.3702+131_3702+136delinsCAACAT	XP_016860058.1:n.3702+131_3702+136delinsCAACAT
XM_017004570.2:c.3702+131_3702+136delinsCAACAT	XP_016860059.1:n.3702+131_3702+136delinsCAACAT
XM_017004572.2:c.1320+131_1320+136delinsCAACAT	XP_016860061.1:n.1320+131_1320+136delinsCAACAT
XM_024453024.1:c.3363+131_3363+136delinsCAACAT	XP_024308792.1:n.3363+131_3363+136delinsCAACAT
XM_024453025.1:c.1638+131_1638+136delinsCAACAT	XP_024308793.1:n.1638+131_1638+136delinsCAACAT
XR_001738864.2:n.3837+131_3837+136delinsCAACAT
XR_001738865.2:n.3837+131_3837+136delinsCAACAT
XR_001738866.2:n.3837+131_3837+136delinsCAACAT
XR_001738867.2:n.3837+131_3837+136delinsCAACAT
XR_002959320.1:n.2893+131_2893+136delinsCAACAT
NM_020919.4:c.3702+131_3702+136delinsCAACAT MANE Select	NP_065970.2:n.3702+131_3702+136delinsCAACAT