Canonical Allele Identifier: CA1321182129

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723649_201723652delinsAATG , CM000664.2:g.201723649_201723652delinsAATG	GRCh38
NC_000002.11:g.202588372_202588375delinsAATG , CM000664.1:g.202588372_202588375delinsAATG	GRCh37
NC_000002.10:g.202296617_202296620delinsAATG	NCBI36
NG_008775.1:g.62521_62524delinsCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3513-211_3513-208delinsCATT MANE Select	ENSP00000264276.6:n.3513-211_3513-208delinsCATT
ENST00000439495.6:c.1191-211_1191-208delinsCATT	ENSP00000403832.2:n.1191-211_1191-208delinsCATT
ENST00000482891.6:n.4281-211_4281-208delinsCATT
ENST00000494017.6:n.1245-211_1245-208delinsCATT
ENST00000679409.1:c.1191-211_1191-208delinsCATT	ENSP00000506531.1:n.1191-211_1191-208delinsCATT
ENST00000679416.1:n.5017-211_5017-208delinsCATT
ENST00000679435.1:c.3513-211_3513-208delinsCATT	ENSP00000505218.1:n.3513-211_3513-208delinsCATT
ENST00000679516.1:c.3513-211_3513-208delinsCATT	ENSP00000505187.1:n.3513-211_3513-208delinsCATT
ENST00000679618.1:c.*601-211_*601-208delinsCATT	ENSP00000506274.1:n.*601-211_*601-208delinsCATT
ENST00000679630.1:n.5362-211_5362-208delinsCATT
ENST00000679686.1:n.3627-211_3627-208delinsCATT
ENST00000679701.1:n.6505-211_6505-208delinsCATT
ENST00000679916.1:c.3513-211_3513-208delinsCATT	ENSP00000506172.1:n.3513-211_3513-208delinsCATT
ENST00000680000.1:c.3513-211_3513-208delinsCATT	ENSP00000506173.1:n.3513-211_3513-208delinsCATT
ENST00000680135.1:c.*1477-211_*1477-208delinsCATT	ENSP00000506211.1:n.*1477-211_*1477-208delinsCATT
ENST00000680149.1:c.3513-211_3513-208delinsCATT	ENSP00000506497.1:n.3513-211_3513-208delinsCATT
ENST00000680163.1:c.3513-211_3513-208delinsCATT	ENSP00000505092.1:n.3513-211_3513-208delinsCATT
ENST00000680174.1:n.4204-211_4204-208delinsCATT
ENST00000680236.1:c.*574-211_*574-208delinsCATT	ENSP00000506212.1:n.*574-211_*574-208delinsCATT
ENST00000680497.1:c.3615-211_3615-208delinsCATT	ENSP00000505954.1:n.3615-211_3615-208delinsCATT
ENST00000680508.1:c.3513-211_3513-208delinsCATT	ENSP00000505749.1:n.3513-211_3513-208delinsCATT
ENST00000680569.1:c.*1224-211_*1224-208delinsCATT	ENSP00000505522.1:n.*1224-211_*1224-208delinsCATT
ENST00000680630.1:n.3945-211_3945-208delinsCATT
ENST00000680634.1:n.21-3163_21-3160delinsCATT
ENST00000680722.1:n.1313-211_1313-208delinsCATT
ENST00000680723.1:n.4296-211_4296-208delinsCATT
ENST00000680726.1:c.3513-211_3513-208delinsCATT	ENSP00000505505.1:n.3513-211_3513-208delinsCATT
ENST00000680737.1:n.3784-211_3784-208delinsCATT
ENST00000680759.1:c.3513-211_3513-208delinsCATT	ENSP00000505848.1:n.3513-211_3513-208delinsCATT
ENST00000680814.1:c.3513-211_3513-208delinsCATT	ENSP00000505710.1:n.3513-211_3513-208delinsCATT
ENST00000680828.1:c.*1085-211_*1085-208delinsCATT	ENSP00000505249.1:n.*1085-211_*1085-208delinsCATT
ENST00000680861.1:c.3513-211_3513-208delinsCATT	ENSP00000505043.1:n.3513-211_3513-208delinsCATT
ENST00000680927.1:c.3513-211_3513-208delinsCATT	ENSP00000505473.1:n.3513-211_3513-208delinsCATT
ENST00000680939.1:n.3855-211_3855-208delinsCATT
ENST00000681152.1:c.3513-211_3513-208delinsCATT	ENSP00000505388.1:n.3513-211_3513-208delinsCATT
ENST00000681250.1:c.*230-211_*230-208delinsCATT	ENSP00000505684.1:n.*230-211_*230-208delinsCATT
ENST00000681256.1:c.*1531-211_*1531-208delinsCATT	ENSP00000505446.1:n.*1531-211_*1531-208delinsCATT
ENST00000681279.1:n.4281-211_4281-208delinsCATT
ENST00000681303.1:c.3513-211_3513-208delinsCATT	ENSP00000505576.1:n.3513-211_3513-208delinsCATT
ENST00000681307.1:n.4626-211_4626-208delinsCATT
ENST00000681461.1:n.4281-211_4281-208delinsCATT
ENST00000681495.1:c.1053-211_1053-208delinsCATT	ENSP00000506085.1:n.1053-211_1053-208delinsCATT
ENST00000681558.1:c.1191-211_1191-208delinsCATT	ENSP00000505568.1:n.1191-211_1191-208delinsCATT
ENST00000681619.1:c.3513-211_3513-208delinsCATT	ENSP00000505071.1:n.3513-211_3513-208delinsCATT
ENST00000681716.1:c.*1224-211_*1224-208delinsCATT	ENSP00000505078.1:n.*1224-211_*1224-208delinsCATT
ENST00000681758.1:n.3855-211_3855-208delinsCATT
ENST00000681768.1:c.*1177-211_*1177-208delinsCATT	ENSP00000506311.1:n.*1177-211_*1177-208delinsCATT
ENST00000681808.1:c.3513-211_3513-208delinsCATT	ENSP00000505219.1:n.3513-211_3513-208delinsCATT
ENST00000264276.10:c.3513-211_3513-208delinsCATT	ENSP00000264276.6:n.3513-211_3513-208delinsCATT
ENST00000439495.5:c.1474-211_1474-208delinsCATT
ENST00000482891.5:n.3653-211_3653-208delinsCATT
ENST00000489440.5:n.334-211_334-208delinsCATT
NM_020919.3:c.3513-211_3513-208delinsCATT	NP_065970.2:n.3513-211_3513-208delinsCATT
XM_005246709.2:c.3513-211_3513-208delinsCATT	XP_005246766.1:n.3513-211_3513-208delinsCATT
XM_006712654.1:c.3513-211_3513-208delinsCATT	XP_006712717.1:n.3513-211_3513-208delinsCATT
XM_006712655.2:c.1449-211_1449-208delinsCATT	XP_006712718.1:n.1449-211_1449-208delinsCATT
XM_011511530.1:c.3174-211_3174-208delinsCATT	XP_011509832.1:n.3174-211_3174-208delinsCATT
XM_011511531.1:c.3513-211_3513-208delinsCATT	XP_011509833.1:n.3513-211_3513-208delinsCATT
XR_922974.1:n.3648-211_3648-208delinsCATT
XM_006712654.3:c.3513-211_3513-208delinsCATT	XP_006712717.1:n.3513-211_3513-208delinsCATT
XM_006712655.3:c.1449-211_1449-208delinsCATT	XP_006712718.1:n.1449-211_1449-208delinsCATT
XM_017004569.2:c.3513-211_3513-208delinsCATT	XP_016860058.1:n.3513-211_3513-208delinsCATT
XM_017004570.2:c.3513-211_3513-208delinsCATT	XP_016860059.1:n.3513-211_3513-208delinsCATT
XM_017004572.2:c.1131-211_1131-208delinsCATT	XP_016860061.1:n.1131-211_1131-208delinsCATT
XM_024453024.1:c.3174-211_3174-208delinsCATT	XP_024308792.1:n.3174-211_3174-208delinsCATT
XM_024453025.1:c.1449-211_1449-208delinsCATT	XP_024308793.1:n.1449-211_1449-208delinsCATT
XR_001738864.2:n.3648-211_3648-208delinsCATT
XR_001738865.2:n.3648-211_3648-208delinsCATT
XR_001738866.2:n.3648-211_3648-208delinsCATT
XR_001738867.2:n.3648-211_3648-208delinsCATT
XR_002959320.1:n.2704-211_2704-208delinsCATT
NM_020919.4:c.3513-211_3513-208delinsCATT MANE Select	NP_065970.2:n.3513-211_3513-208delinsCATT