Canonical Allele Identifier: CA1321181649

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723134_201723136delinsCAA , CM000664.2:g.201723134_201723136delinsCAA	GRCh38
NC_000002.11:g.202587857_202587859delinsCAA , CM000664.1:g.202587857_202587859delinsCAA	GRCh37
NC_000002.10:g.202296102_202296104delinsCAA	NCBI36
NG_008775.1:g.63037_63039delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3625-16_3625-14delinsTTG MANE Select	ENSP00000264276.6:n.3625-16_3625-14delinsTTG
ENST00000439495.6:c.1303-16_1303-14delinsTTG	ENSP00000403832.2:n.1303-16_1303-14delinsTTG
ENST00000482891.6:n.4393-16_4393-14delinsTTG
ENST00000494017.6:n.1357-16_1357-14delinsTTG
ENST00000679409.1:c.1303-16_1303-14delinsTTG	ENSP00000506531.1:n.1303-16_1303-14delinsTTG
ENST00000679416.1:n.5129-16_5129-14delinsTTG
ENST00000679435.1:c.3625-16_3625-14delinsTTG	ENSP00000505218.1:n.3625-16_3625-14delinsTTG
ENST00000679516.1:c.3625-16_3625-14delinsTTG	ENSP00000505187.1:n.3625-16_3625-14delinsTTG
ENST00000679618.1:c.*713-16_*713-14delinsTTG	ENSP00000506274.1:n.*713-16_*713-14delinsTTG
ENST00000679630.1:n.5474-16_5474-14delinsTTG
ENST00000679686.1:n.3739-16_3739-14delinsTTG
ENST00000679701.1:n.6617-16_6617-14delinsTTG
ENST00000679916.1:c.3625-16_3625-14delinsTTG	ENSP00000506172.1:n.3625-16_3625-14delinsTTG
ENST00000680000.1:c.3625-16_3625-14delinsTTG	ENSP00000506173.1:n.3625-16_3625-14delinsTTG
ENST00000680135.1:c.*1589-16_*1589-14delinsTTG	ENSP00000506211.1:n.*1589-16_*1589-14delinsTTG
ENST00000680149.1:c.3625-16_3625-14delinsTTG	ENSP00000506497.1:n.3625-16_3625-14delinsTTG
ENST00000680163.1:c.3625-16_3625-14delinsTTG	ENSP00000505092.1:n.3625-16_3625-14delinsTTG
ENST00000680174.1:n.4316-16_4316-14delinsTTG
ENST00000680236.1:c.*686-16_*686-14delinsTTG	ENSP00000506212.1:n.*686-16_*686-14delinsTTG
ENST00000680497.1:c.3727-16_3727-14delinsTTG	ENSP00000505954.1:n.3727-16_3727-14delinsTTG
ENST00000680508.1:c.3625-16_3625-14delinsTTG	ENSP00000505749.1:n.3625-16_3625-14delinsTTG
ENST00000680569.1:c.*1336-16_*1336-14delinsTTG	ENSP00000505522.1:n.*1336-16_*1336-14delinsTTG
ENST00000680630.1:n.4057-16_4057-14delinsTTG
ENST00000680634.1:n.21-2647_21-2645delinsTTG
ENST00000680722.1:n.1425-16_1425-14delinsTTG
ENST00000680723.1:n.4408-16_4408-14delinsTTG
ENST00000680726.1:c.3625-16_3625-14delinsTTG	ENSP00000505505.1:n.3625-16_3625-14delinsTTG
ENST00000680737.1:n.3896-16_3896-14delinsTTG
ENST00000680759.1:c.3625-16_3625-14delinsTTG	ENSP00000505848.1:n.3625-16_3625-14delinsTTG
ENST00000680814.1:c.3625-16_3625-14delinsTTG	ENSP00000505710.1:n.3625-16_3625-14delinsTTG
ENST00000680828.1:c.*1197-16_*1197-14delinsTTG	ENSP00000505249.1:n.*1197-16_*1197-14delinsTTG
ENST00000680861.1:c.3625-16_3625-14delinsTTG	ENSP00000505043.1:n.3625-16_3625-14delinsTTG
ENST00000680927.1:c.3625-16_3625-14delinsTTG	ENSP00000505473.1:n.3625-16_3625-14delinsTTG
ENST00000680939.1:n.3967-16_3967-14delinsTTG
ENST00000681152.1:c.3625-16_3625-14delinsTTG	ENSP00000505388.1:n.3625-16_3625-14delinsTTG
ENST00000681250.1:c.*342-16_*342-14delinsTTG	ENSP00000505684.1:n.*342-16_*342-14delinsTTG
ENST00000681256.1:c.*1643-16_*1643-14delinsTTG	ENSP00000505446.1:n.*1643-16_*1643-14delinsTTG
ENST00000681279.1:n.4393-16_4393-14delinsTTG
ENST00000681303.1:c.3625-16_3625-14delinsTTG	ENSP00000505576.1:n.3625-16_3625-14delinsTTG
ENST00000681307.1:n.4738-16_4738-14delinsTTG
ENST00000681461.1:n.4393-16_4393-14delinsTTG
ENST00000681495.1:c.1165-16_1165-14delinsTTG	ENSP00000506085.1:n.1165-16_1165-14delinsTTG
ENST00000681558.1:c.1303-16_1303-14delinsTTG	ENSP00000505568.1:n.1303-16_1303-14delinsTTG
ENST00000681619.1:c.3625-16_3625-14delinsTTG	ENSP00000505071.1:n.3625-16_3625-14delinsTTG
ENST00000681716.1:c.*1336-16_*1336-14delinsTTG	ENSP00000505078.1:n.*1336-16_*1336-14delinsTTG
ENST00000681758.1:n.3967-16_3967-14delinsTTG
ENST00000681768.1:c.*1289-16_*1289-14delinsTTG	ENSP00000506311.1:n.*1289-16_*1289-14delinsTTG
ENST00000681808.1:c.3625-16_3625-14delinsTTG	ENSP00000505219.1:n.3625-16_3625-14delinsTTG
ENST00000264276.10:c.3625-16_3625-14delinsTTG	ENSP00000264276.6:n.3625-16_3625-14delinsTTG
ENST00000439495.5:c.1586-16_1586-14delinsTTG
ENST00000482891.5:n.3765-16_3765-14delinsTTG
ENST00000489440.5:n.446-16_446-14delinsTTG
NM_020919.3:c.3625-16_3625-14delinsTTG	NP_065970.2:n.3625-16_3625-14delinsTTG
XM_005246709.2:c.3625-16_3625-14delinsTTG	XP_005246766.1:n.3625-16_3625-14delinsTTG
XM_006712654.1:c.3625-16_3625-14delinsTTG	XP_006712717.1:n.3625-16_3625-14delinsTTG
XM_006712655.2:c.1561-16_1561-14delinsTTG	XP_006712718.1:n.1561-16_1561-14delinsTTG
XM_011511530.1:c.3286-16_3286-14delinsTTG	XP_011509832.1:n.3286-16_3286-14delinsTTG
XM_011511531.1:c.3625-16_3625-14delinsTTG	XP_011509833.1:n.3625-16_3625-14delinsTTG
XR_922974.1:n.3760-16_3760-14delinsTTG
XM_006712654.3:c.3625-16_3625-14delinsTTG	XP_006712717.1:n.3625-16_3625-14delinsTTG
XM_006712655.3:c.1561-16_1561-14delinsTTG	XP_006712718.1:n.1561-16_1561-14delinsTTG
XM_017004569.2:c.3625-16_3625-14delinsTTG	XP_016860058.1:n.3625-16_3625-14delinsTTG
XM_017004570.2:c.3625-16_3625-14delinsTTG	XP_016860059.1:n.3625-16_3625-14delinsTTG
XM_017004572.2:c.1243-16_1243-14delinsTTG	XP_016860061.1:n.1243-16_1243-14delinsTTG
XM_024453024.1:c.3286-16_3286-14delinsTTG	XP_024308792.1:n.3286-16_3286-14delinsTTG
XM_024453025.1:c.1561-16_1561-14delinsTTG	XP_024308793.1:n.1561-16_1561-14delinsTTG
XR_001738864.2:n.3760-16_3760-14delinsTTG
XR_001738865.2:n.3760-16_3760-14delinsTTG
XR_001738866.2:n.3760-16_3760-14delinsTTG
XR_001738867.2:n.3760-16_3760-14delinsTTG
XR_002959320.1:n.2816-16_2816-14delinsTTG
NM_020919.4:c.3625-16_3625-14delinsTTG MANE Select	NP_065970.2:n.3625-16_3625-14delinsTTG