Canonical Allele Identifier: CA1321181494

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723002_201723007delinsGAATTT , CM000664.2:g.201723002_201723007delinsGAATTT	GRCh38
NC_000002.11:g.202587725_202587730delinsGAATTT , CM000664.1:g.202587725_202587730delinsGAATTT	GRCh37
NC_000002.10:g.202295970_202295975delinsGAATTT	NCBI36
NG_008775.1:g.63166_63171delinsAAATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3702+36_3702+41delinsAAATTC MANE Select	ENSP00000264276.6:n.3702+36_3702+41delinsAAATTC
ENST00000439495.6:c.1380+36_1380+41delinsAAATTC	ENSP00000403832.2:n.1380+36_1380+41delinsAAATTC
ENST00000482891.6:n.4506_4511delinsAAATTC
ENST00000494017.6:n.1470_1475delinsAAATTC
ENST00000679409.1:c.1380+36_1380+41delinsAAATTC	ENSP00000506531.1:n.1380+36_1380+41delinsAAATTC
ENST00000679416.1:n.5206+36_5206+41delinsAAATTC
ENST00000679435.1:c.3702+36_3702+41delinsAAATTC	ENSP00000505218.1:n.3702+36_3702+41delinsAAATTC
ENST00000679516.1:c.3702+36_3702+41delinsAAATTC	ENSP00000505187.1:n.3702+36_3702+41delinsAAATTC
ENST00000679618.1:c.*790+36_*790+41delinsAAATTC	ENSP00000506274.1:n.*790+36_*790+41delinsAAATTC
ENST00000679630.1:n.5551+36_5551+41delinsAAATTC
ENST00000679686.1:n.3816+36_3816+41delinsAAATTC
ENST00000679701.1:n.6694+36_6694+41delinsAAATTC
ENST00000679916.1:c.3702+36_3702+41delinsAAATTC	ENSP00000506172.1:n.3702+36_3702+41delinsAAATTC
ENST00000680000.1:c.3702+36_3702+41delinsAAATTC	ENSP00000506173.1:n.3702+36_3702+41delinsAAATTC
ENST00000680135.1:c.*1666+36_*1666+41delinsAAATTC	ENSP00000506211.1:n.*1666+36_*1666+41delinsAAATTC
ENST00000680149.1:c.3702+36_3702+41delinsAAATTC	ENSP00000506497.1:n.3702+36_3702+41delinsAAATTC
ENST00000680163.1:c.3702+36_3702+41delinsAAATTC	ENSP00000505092.1:n.3702+36_3702+41delinsAAATTC
ENST00000680174.1:n.4393+36_4393+41delinsAAATTC
ENST00000680236.1:c.*763+36_*763+41delinsAAATTC	ENSP00000506212.1:n.*763+36_*763+41delinsAAATTC
ENST00000680497.1:c.3804+36_3804+41delinsAAATTC	ENSP00000505954.1:n.3804+36_3804+41delinsAAATTC
ENST00000680508.1:c.3702+36_3702+41delinsAAATTC	ENSP00000505749.1:n.3702+36_3702+41delinsAAATTC
ENST00000680569.1:c.*1413+36_*1413+41delinsAAATTC	ENSP00000505522.1:n.*1413+36_*1413+41delinsAAATTC
ENST00000680630.1:n.4134+36_4134+41delinsAAATTC
ENST00000680634.1:n.21-2518_21-2513delinsAAATTC
ENST00000680722.1:n.1502+36_1502+41delinsAAATTC
ENST00000680723.1:n.4521_4526delinsAAATTC
ENST00000680726.1:c.3702+36_3702+41delinsAAATTC	ENSP00000505505.1:n.3702+36_3702+41delinsAAATTC
ENST00000680737.1:n.3973+36_3973+41delinsAAATTC
ENST00000680759.1:c.3702+36_3702+41delinsAAATTC	ENSP00000505848.1:n.3702+36_3702+41delinsAAATTC
ENST00000680814.1:c.3702+36_3702+41delinsAAATTC	ENSP00000505710.1:n.3702+36_3702+41delinsAAATTC
ENST00000680828.1:c.*1274+36_*1274+41delinsAAATTC	ENSP00000505249.1:n.*1274+36_*1274+41delinsAAATTC
ENST00000680861.1:c.3702+36_3702+41delinsAAATTC	ENSP00000505043.1:n.3702+36_3702+41delinsAAATTC
ENST00000680927.1:c.3702+36_3702+41delinsAAATTC	ENSP00000505473.1:n.3702+36_3702+41delinsAAATTC
ENST00000680939.1:n.4044+36_4044+41delinsAAATTC
ENST00000681152.1:c.*24_*29delinsAAATTC	ENSP00000505388.1:n.*24_*29delinsAAATTC
ENST00000681250.1:c.*419+36_*419+41delinsAAATTC	ENSP00000505684.1:n.*419+36_*419+41delinsAAATTC
ENST00000681256.1:c.*1720+36_*1720+41delinsAAATTC	ENSP00000505446.1:n.*1720+36_*1720+41delinsAAATTC
ENST00000681279.1:n.4470+36_4470+41delinsAAATTC
ENST00000681303.1:c.*24_*29delinsAAATTC	ENSP00000505576.1:n.*24_*29delinsAAATTC
ENST00000681307.1:n.4815+36_4815+41delinsAAATTC
ENST00000681461.1:n.4470+36_4470+41delinsAAATTC
ENST00000681495.1:c.1242+36_1242+41delinsAAATTC	ENSP00000506085.1:n.1242+36_1242+41delinsAAATTC
ENST00000681558.1:c.1380+36_1380+41delinsAAATTC	ENSP00000505568.1:n.1380+36_1380+41delinsAAATTC
ENST00000681619.1:c.3702+36_3702+41delinsAAATTC	ENSP00000505071.1:n.3702+36_3702+41delinsAAATTC
ENST00000681716.1:c.*1413+36_*1413+41delinsAAATTC	ENSP00000505078.1:n.*1413+36_*1413+41delinsAAATTC
ENST00000681758.1:n.4044+36_4044+41delinsAAATTC
ENST00000681768.1:c.*1366+36_*1366+41delinsAAATTC	ENSP00000506311.1:n.*1366+36_*1366+41delinsAAATTC
ENST00000681808.1:c.3702+36_3702+41delinsAAATTC	ENSP00000505219.1:n.3702+36_3702+41delinsAAATTC
ENST00000264276.10:c.3702+36_3702+41delinsAAATTC	ENSP00000264276.6:n.3702+36_3702+41delinsAAATTC
ENST00000439495.5:c.1663+36_1663+41delinsAAATTC
ENST00000482891.5:n.3878_3883delinsAAATTC
ENST00000489440.5:n.523+36_523+41delinsAAATTC
NM_020919.3:c.3702+36_3702+41delinsAAATTC	NP_065970.2:n.3702+36_3702+41delinsAAATTC
XM_005246709.2:c.3702+36_3702+41delinsAAATTC	XP_005246766.1:n.3702+36_3702+41delinsAAATTC
XM_006712654.1:c.3702+36_3702+41delinsAAATTC	XP_006712717.1:n.3702+36_3702+41delinsAAATTC
XM_006712655.2:c.1638+36_1638+41delinsAAATTC	XP_006712718.1:n.1638+36_1638+41delinsAAATTC
XM_011511530.1:c.3363+36_3363+41delinsAAATTC	XP_011509832.1:n.3363+36_3363+41delinsAAATTC
XM_011511531.1:c.3702+36_3702+41delinsAAATTC	XP_011509833.1:n.3702+36_3702+41delinsAAATTC
XR_922974.1:n.3837+36_3837+41delinsAAATTC
XM_006712654.3:c.3702+36_3702+41delinsAAATTC	XP_006712717.1:n.3702+36_3702+41delinsAAATTC
XM_006712655.3:c.1638+36_1638+41delinsAAATTC	XP_006712718.1:n.1638+36_1638+41delinsAAATTC
XM_017004569.2:c.3702+36_3702+41delinsAAATTC	XP_016860058.1:n.3702+36_3702+41delinsAAATTC
XM_017004570.2:c.3702+36_3702+41delinsAAATTC	XP_016860059.1:n.3702+36_3702+41delinsAAATTC
XM_017004572.2:c.1320+36_1320+41delinsAAATTC	XP_016860061.1:n.1320+36_1320+41delinsAAATTC
XM_024453024.1:c.3363+36_3363+41delinsAAATTC	XP_024308792.1:n.3363+36_3363+41delinsAAATTC
XM_024453025.1:c.1638+36_1638+41delinsAAATTC	XP_024308793.1:n.1638+36_1638+41delinsAAATTC
XR_001738864.2:n.3837+36_3837+41delinsAAATTC
XR_001738865.2:n.3837+36_3837+41delinsAAATTC
XR_001738866.2:n.3837+36_3837+41delinsAAATTC
XR_001738867.2:n.3837+36_3837+41delinsAAATTC
XR_002959320.1:n.2893+36_2893+41delinsAAATTC
NM_020919.4:c.3702+36_3702+41delinsAAATTC MANE Select	NP_065970.2:n.3702+36_3702+41delinsAAATTC