Canonical Allele Identifier: CA2662676441

Gene: ALS2

Linked Data

• gnomAD v4: 2-201723127-GAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723130_201723133del , CM000664.2:g.201723130_201723133del	GRCh38
NC_000002.11:g.202587853_202587856del , CM000664.1:g.202587853_202587856del	GRCh37
NC_000002.10:g.202296098_202296101del	NCBI36
NG_008775.1:g.63042_63045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3625-11_3625-8del MANE Select	ENSP00000264276.6:n.3625-11_3625-8del
ENST00000439495.6:c.1303-11_1303-8del	ENSP00000403832.2:n.1303-11_1303-8del
ENST00000482891.6:n.4393-11_4393-8del
ENST00000494017.6:n.1357-11_1357-8del
ENST00000679409.1:c.1303-11_1303-8del	ENSP00000506531.1:n.1303-11_1303-8del
ENST00000679416.1:n.5129-11_5129-8del
ENST00000679435.1:c.3625-11_3625-8del	ENSP00000505218.1:n.3625-11_3625-8del
ENST00000679516.1:c.3625-11_3625-8del	ENSP00000505187.1:n.3625-11_3625-8del
ENST00000679618.1:c.*713-11_*713-8del	ENSP00000506274.1:n.*713-11_*713-8del
ENST00000679630.1:n.5474-11_5474-8del
ENST00000679686.1:n.3739-11_3739-8del
ENST00000679701.1:n.6617-11_6617-8del
ENST00000679916.1:c.3625-11_3625-8del	ENSP00000506172.1:n.3625-11_3625-8del
ENST00000680000.1:c.3625-11_3625-8del	ENSP00000506173.1:n.3625-11_3625-8del
ENST00000680135.1:c.*1589-11_*1589-8del	ENSP00000506211.1:n.*1589-11_*1589-8del
ENST00000680149.1:c.3625-11_3625-8del	ENSP00000506497.1:n.3625-11_3625-8del
ENST00000680163.1:c.3625-11_3625-8del	ENSP00000505092.1:n.3625-11_3625-8del
ENST00000680174.1:n.4316-11_4316-8del
ENST00000680236.1:c.*686-11_*686-8del	ENSP00000506212.1:n.*686-11_*686-8del
ENST00000680497.1:c.3727-11_3727-8del	ENSP00000505954.1:n.3727-11_3727-8del
ENST00000680508.1:c.3625-11_3625-8del	ENSP00000505749.1:n.3625-11_3625-8del
ENST00000680569.1:c.*1336-11_*1336-8del	ENSP00000505522.1:n.*1336-11_*1336-8del
ENST00000680630.1:n.4057-11_4057-8del
ENST00000680634.1:n.21-2642_21-2639del
ENST00000680722.1:n.1425-11_1425-8del
ENST00000680723.1:n.4408-11_4408-8del
ENST00000680726.1:c.3625-11_3625-8del	ENSP00000505505.1:n.3625-11_3625-8del
ENST00000680737.1:n.3896-11_3896-8del
ENST00000680759.1:c.3625-11_3625-8del	ENSP00000505848.1:n.3625-11_3625-8del
ENST00000680814.1:c.3625-11_3625-8del	ENSP00000505710.1:n.3625-11_3625-8del
ENST00000680828.1:c.*1197-11_*1197-8del	ENSP00000505249.1:n.*1197-11_*1197-8del
ENST00000680861.1:c.3625-11_3625-8del	ENSP00000505043.1:n.3625-11_3625-8del
ENST00000680927.1:c.3625-11_3625-8del	ENSP00000505473.1:n.3625-11_3625-8del
ENST00000680939.1:n.3967-11_3967-8del
ENST00000681152.1:c.3625-11_3625-8del	ENSP00000505388.1:n.3625-11_3625-8del
ENST00000681250.1:c.*342-11_*342-8del	ENSP00000505684.1:n.*342-11_*342-8del
ENST00000681256.1:c.*1643-11_*1643-8del	ENSP00000505446.1:n.*1643-11_*1643-8del
ENST00000681279.1:n.4393-11_4393-8del
ENST00000681303.1:c.3625-11_3625-8del	ENSP00000505576.1:n.3625-11_3625-8del
ENST00000681307.1:n.4738-11_4738-8del
ENST00000681461.1:n.4393-11_4393-8del
ENST00000681495.1:c.1165-11_1165-8del	ENSP00000506085.1:n.1165-11_1165-8del
ENST00000681558.1:c.1303-11_1303-8del	ENSP00000505568.1:n.1303-11_1303-8del
ENST00000681619.1:c.3625-11_3625-8del	ENSP00000505071.1:n.3625-11_3625-8del
ENST00000681716.1:c.*1336-11_*1336-8del	ENSP00000505078.1:n.*1336-11_*1336-8del
ENST00000681758.1:n.3967-11_3967-8del
ENST00000681768.1:c.*1289-11_*1289-8del	ENSP00000506311.1:n.*1289-11_*1289-8del
ENST00000681808.1:c.3625-11_3625-8del	ENSP00000505219.1:n.3625-11_3625-8del
ENST00000264276.10:c.3625-11_3625-8del	ENSP00000264276.6:n.3625-11_3625-8del
ENST00000439495.5:c.1586-11_1586-8del
ENST00000482891.5:n.3765-11_3765-8del
ENST00000489440.5:n.446-11_446-8del
NM_020919.3:c.3625-11_3625-8del	NP_065970.2:n.3625-11_3625-8del
XM_005246709.2:c.3625-11_3625-8del	XP_005246766.1:n.3625-11_3625-8del
XM_006712654.1:c.3625-11_3625-8del	XP_006712717.1:n.3625-11_3625-8del
XM_006712655.2:c.1561-11_1561-8del	XP_006712718.1:n.1561-11_1561-8del
XM_011511530.1:c.3286-11_3286-8del	XP_011509832.1:n.3286-11_3286-8del
XM_011511531.1:c.3625-11_3625-8del	XP_011509833.1:n.3625-11_3625-8del
XR_922974.1:n.3760-11_3760-8del
XM_006712654.3:c.3625-11_3625-8del	XP_006712717.1:n.3625-11_3625-8del
XM_006712655.3:c.1561-11_1561-8del	XP_006712718.1:n.1561-11_1561-8del
XM_017004569.2:c.3625-11_3625-8del	XP_016860058.1:n.3625-11_3625-8del
XM_017004570.2:c.3625-11_3625-8del	XP_016860059.1:n.3625-11_3625-8del
XM_017004572.2:c.1243-11_1243-8del	XP_016860061.1:n.1243-11_1243-8del
XM_024453024.1:c.3286-11_3286-8del	XP_024308792.1:n.3286-11_3286-8del
XM_024453025.1:c.1561-11_1561-8del	XP_024308793.1:n.1561-11_1561-8del
XR_001738864.2:n.3760-11_3760-8del
XR_001738865.2:n.3760-11_3760-8del
XR_001738866.2:n.3760-11_3760-8del
XR_001738867.2:n.3760-11_3760-8del
XR_002959320.1:n.2816-11_2816-8del
NM_020919.4:c.3625-11_3625-8del MANE Select	NP_065970.2:n.3625-11_3625-8del