Canonical Allele Identifier: CA1321182204

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723723_201723726delinsAAAG , CM000664.2:g.201723723_201723726delinsAAAG	GRCh38
NC_000002.11:g.202588446_202588449delinsAAAG , CM000664.1:g.202588446_202588449delinsAAAG	GRCh37
NC_000002.10:g.202296691_202296694delinsAAAG	NCBI36
NG_008775.1:g.62447_62450delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3513-285_3513-282delinsCTTT MANE Select	ENSP00000264276.6:n.3513-285_3513-282delinsCTTT
ENST00000439495.6:c.1191-285_1191-282delinsCTTT	ENSP00000403832.2:n.1191-285_1191-282delinsCTTT
ENST00000482891.6:n.4281-285_4281-282delinsCTTT
ENST00000494017.6:n.1245-285_1245-282delinsCTTT
ENST00000679409.1:c.1191-285_1191-282delinsCTTT	ENSP00000506531.1:n.1191-285_1191-282delinsCTTT
ENST00000679416.1:n.5017-285_5017-282delinsCTTT
ENST00000679435.1:c.3513-285_3513-282delinsCTTT	ENSP00000505218.1:n.3513-285_3513-282delinsCTTT
ENST00000679516.1:c.3513-285_3513-282delinsCTTT	ENSP00000505187.1:n.3513-285_3513-282delinsCTTT
ENST00000679618.1:c.*601-285_*601-282delinsCTTT	ENSP00000506274.1:n.*601-285_*601-282delinsCTTT
ENST00000679630.1:n.5362-285_5362-282delinsCTTT
ENST00000679686.1:n.3627-285_3627-282delinsCTTT
ENST00000679701.1:n.6505-285_6505-282delinsCTTT
ENST00000679916.1:c.3513-285_3513-282delinsCTTT	ENSP00000506172.1:n.3513-285_3513-282delinsCTTT
ENST00000680000.1:c.3513-285_3513-282delinsCTTT	ENSP00000506173.1:n.3513-285_3513-282delinsCTTT
ENST00000680135.1:c.*1477-285_*1477-282delinsCTTT	ENSP00000506211.1:n.*1477-285_*1477-282delinsCTTT
ENST00000680149.1:c.3513-285_3513-282delinsCTTT	ENSP00000506497.1:n.3513-285_3513-282delinsCTTT
ENST00000680163.1:c.3513-285_3513-282delinsCTTT	ENSP00000505092.1:n.3513-285_3513-282delinsCTTT
ENST00000680174.1:n.4204-285_4204-282delinsCTTT
ENST00000680236.1:c.*574-285_*574-282delinsCTTT	ENSP00000506212.1:n.*574-285_*574-282delinsCTTT
ENST00000680497.1:c.3615-285_3615-282delinsCTTT	ENSP00000505954.1:n.3615-285_3615-282delinsCTTT
ENST00000680508.1:c.3513-285_3513-282delinsCTTT	ENSP00000505749.1:n.3513-285_3513-282delinsCTTT
ENST00000680569.1:c.*1224-285_*1224-282delinsCTTT	ENSP00000505522.1:n.*1224-285_*1224-282delinsCTTT
ENST00000680630.1:n.3945-285_3945-282delinsCTTT
ENST00000680634.1:n.21-3237_21-3234delinsCTTT
ENST00000680722.1:n.1313-285_1313-282delinsCTTT
ENST00000680723.1:n.4296-285_4296-282delinsCTTT
ENST00000680726.1:c.3513-285_3513-282delinsCTTT	ENSP00000505505.1:n.3513-285_3513-282delinsCTTT
ENST00000680737.1:n.3784-285_3784-282delinsCTTT
ENST00000680759.1:c.3513-285_3513-282delinsCTTT	ENSP00000505848.1:n.3513-285_3513-282delinsCTTT
ENST00000680814.1:c.3513-285_3513-282delinsCTTT	ENSP00000505710.1:n.3513-285_3513-282delinsCTTT
ENST00000680828.1:c.*1085-285_*1085-282delinsCTTT	ENSP00000505249.1:n.*1085-285_*1085-282delinsCTTT
ENST00000680861.1:c.3513-285_3513-282delinsCTTT	ENSP00000505043.1:n.3513-285_3513-282delinsCTTT
ENST00000680927.1:c.3513-285_3513-282delinsCTTT	ENSP00000505473.1:n.3513-285_3513-282delinsCTTT
ENST00000680939.1:n.3855-285_3855-282delinsCTTT
ENST00000681152.1:c.3513-285_3513-282delinsCTTT	ENSP00000505388.1:n.3513-285_3513-282delinsCTTT
ENST00000681250.1:c.*230-285_*230-282delinsCTTT	ENSP00000505684.1:n.*230-285_*230-282delinsCTTT
ENST00000681256.1:c.*1531-285_*1531-282delinsCTTT	ENSP00000505446.1:n.*1531-285_*1531-282delinsCTTT
ENST00000681279.1:n.4281-285_4281-282delinsCTTT
ENST00000681303.1:c.3513-285_3513-282delinsCTTT	ENSP00000505576.1:n.3513-285_3513-282delinsCTTT
ENST00000681307.1:n.4626-285_4626-282delinsCTTT
ENST00000681461.1:n.4281-285_4281-282delinsCTTT
ENST00000681495.1:c.1053-285_1053-282delinsCTTT	ENSP00000506085.1:n.1053-285_1053-282delinsCTTT
ENST00000681558.1:c.1191-285_1191-282delinsCTTT	ENSP00000505568.1:n.1191-285_1191-282delinsCTTT
ENST00000681619.1:c.3513-285_3513-282delinsCTTT	ENSP00000505071.1:n.3513-285_3513-282delinsCTTT
ENST00000681716.1:c.*1224-285_*1224-282delinsCTTT	ENSP00000505078.1:n.*1224-285_*1224-282delinsCTTT
ENST00000681758.1:n.3855-285_3855-282delinsCTTT
ENST00000681768.1:c.*1177-285_*1177-282delinsCTTT	ENSP00000506311.1:n.*1177-285_*1177-282delinsCTTT
ENST00000681808.1:c.3513-285_3513-282delinsCTTT	ENSP00000505219.1:n.3513-285_3513-282delinsCTTT
ENST00000264276.10:c.3513-285_3513-282delinsCTTT	ENSP00000264276.6:n.3513-285_3513-282delinsCTTT
ENST00000439495.5:c.1474-285_1474-282delinsCTTT
ENST00000482891.5:n.3653-285_3653-282delinsCTTT
ENST00000489440.5:n.334-285_334-282delinsCTTT
NM_020919.3:c.3513-285_3513-282delinsCTTT	NP_065970.2:n.3513-285_3513-282delinsCTTT
XM_005246709.2:c.3513-285_3513-282delinsCTTT	XP_005246766.1:n.3513-285_3513-282delinsCTTT
XM_006712654.1:c.3513-285_3513-282delinsCTTT	XP_006712717.1:n.3513-285_3513-282delinsCTTT
XM_006712655.2:c.1449-285_1449-282delinsCTTT	XP_006712718.1:n.1449-285_1449-282delinsCTTT
XM_011511530.1:c.3174-285_3174-282delinsCTTT	XP_011509832.1:n.3174-285_3174-282delinsCTTT
XM_011511531.1:c.3513-285_3513-282delinsCTTT	XP_011509833.1:n.3513-285_3513-282delinsCTTT
XR_922974.1:n.3648-285_3648-282delinsCTTT
XM_006712654.3:c.3513-285_3513-282delinsCTTT	XP_006712717.1:n.3513-285_3513-282delinsCTTT
XM_006712655.3:c.1449-285_1449-282delinsCTTT	XP_006712718.1:n.1449-285_1449-282delinsCTTT
XM_017004569.2:c.3513-285_3513-282delinsCTTT	XP_016860058.1:n.3513-285_3513-282delinsCTTT
XM_017004570.2:c.3513-285_3513-282delinsCTTT	XP_016860059.1:n.3513-285_3513-282delinsCTTT
XM_017004572.2:c.1131-285_1131-282delinsCTTT	XP_016860061.1:n.1131-285_1131-282delinsCTTT
XM_024453024.1:c.3174-285_3174-282delinsCTTT	XP_024308792.1:n.3174-285_3174-282delinsCTTT
XM_024453025.1:c.1449-285_1449-282delinsCTTT	XP_024308793.1:n.1449-285_1449-282delinsCTTT
XR_001738864.2:n.3648-285_3648-282delinsCTTT
XR_001738865.2:n.3648-285_3648-282delinsCTTT
XR_001738866.2:n.3648-285_3648-282delinsCTTT
XR_001738867.2:n.3648-285_3648-282delinsCTTT
XR_002959320.1:n.2704-285_2704-282delinsCTTT
NM_020919.4:c.3513-285_3513-282delinsCTTT MANE Select	NP_065970.2:n.3513-285_3513-282delinsCTTT