Canonical Allele Identifier: CA1321156534

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704225_201704227delinsCAG , CM000664.2:g.201704225_201704227delinsCAG	GRCh38
NC_000002.11:g.202568948_202568950delinsCAG , CM000664.1:g.202568948_202568950delinsCAG	GRCh37
NC_000002.10:g.202277193_202277195delinsCAG	NCBI36
NG_008775.1:g.81946_81948delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4839-9_4839-7delinsCTG MANE Select	ENSP00000264276.6:n.4839-9_4839-7delinsCTG
ENST00000439495.6:c.*1019-9_*1019-7delinsCTG	ENSP00000403832.2:n.*1019-9_*1019-7delinsCTG
ENST00000679409.1:c.*1535_*1537delinsCTG	ENSP00000506531.1:n.*1535_*1537delinsCTG
ENST00000679416.1:n.6343-9_6343-7delinsCTG
ENST00000679427.1:n.2501_2503delinsCTG
ENST00000679435.1:c.4839-9_4839-7delinsCTG	ENSP00000505218.1:n.4839-9_4839-7delinsCTG
ENST00000679516.1:c.4839-9_4839-7delinsCTG	ENSP00000505187.1:n.4839-9_4839-7delinsCTG
ENST00000679618.1:c.*1927-9_*1927-7delinsCTG	ENSP00000506274.1:n.*1927-9_*1927-7delinsCTG
ENST00000679630.1:n.6688-9_6688-7delinsCTG
ENST00000679635.1:n.3092_3094delinsCTG
ENST00000679686.1:n.4953-9_4953-7delinsCTG
ENST00000679701.1:n.7831-9_7831-7delinsCTG
ENST00000679916.1:c.*1187-9_*1187-7delinsCTG	ENSP00000506172.1:n.*1187-9_*1187-7delinsCTG
ENST00000680000.1:c.4839-9_4839-7delinsCTG	ENSP00000506173.1:n.4839-9_4839-7delinsCTG
ENST00000680135.1:c.*2800-9_*2800-7delinsCTG	ENSP00000506211.1:n.*2800-9_*2800-7delinsCTG
ENST00000680149.1:c.*121-9_*121-7delinsCTG	ENSP00000506497.1:n.*121-9_*121-7delinsCTG
ENST00000680163.1:c.4839-9_4839-7delinsCTG	ENSP00000505092.1:n.4839-9_4839-7delinsCTG
ENST00000680174.1:n.5530-9_5530-7delinsCTG
ENST00000680236.1:c.*1900-9_*1900-7delinsCTG	ENSP00000506212.1:n.*1900-9_*1900-7delinsCTG
ENST00000680404.1:n.354-9_354-7delinsCTG
ENST00000680441.1:n.3397-9_3397-7delinsCTG
ENST00000680497.1:c.4941-9_4941-7delinsCTG	ENSP00000505954.1:n.4941-9_4941-7delinsCTG
ENST00000680508.1:c.4849_4851delinsCTG	ENSP00000505749.1:p.Leu1617=
ENST00000680569.1:c.*2773_*2775delinsCTG	ENSP00000505522.1:n.*2773_*2775delinsCTG
ENST00000680634.1:n.1347-9_1347-7delinsCTG
ENST00000680722.1:n.2639-9_2639-7delinsCTG
ENST00000680726.1:c.*121-9_*121-7delinsCTG	ENSP00000505505.1:n.*121-9_*121-7delinsCTG
ENST00000680759.1:c.4671-9_4671-7delinsCTG	ENSP00000505848.1:n.4671-9_4671-7delinsCTG
ENST00000680814.1:c.4838+227_4838+229delinsCTG	ENSP00000505710.1:n.4838+227_4838+229delinsCTG
ENST00000680828.1:c.*2533-9_*2533-7delinsCTG	ENSP00000505249.1:n.*2533-9_*2533-7delinsCTG
ENST00000680861.1:c.4839-9_4839-7delinsCTG	ENSP00000505043.1:n.4839-9_4839-7delinsCTG
ENST00000680927.1:c.*1019-9_*1019-7delinsCTG	ENSP00000505473.1:n.*1019-9_*1019-7delinsCTG
ENST00000680939.1:n.6771_6773delinsCTG
ENST00000681250.1:c.*1556-9_*1556-7delinsCTG	ENSP00000505684.1:n.*1556-9_*1556-7delinsCTG
ENST00000681256.1:c.*2854-9_*2854-7delinsCTG	ENSP00000505446.1:n.*2854-9_*2854-7delinsCTG
ENST00000681279.1:n.5705-9_5705-7delinsCTG
ENST00000681307.1:n.5952-9_5952-7delinsCTG
ENST00000681461.1:n.5607-9_5607-7delinsCTG
ENST00000681495.1:c.2376-9_2376-7delinsCTG	ENSP00000506085.1:n.2376-9_2376-7delinsCTG
ENST00000681558.1:c.2517-9_2517-7delinsCTG	ENSP00000505568.1:n.2517-9_2517-7delinsCTG
ENST00000681619.1:c.4836-9_4836-7delinsCTG	ENSP00000505071.1:n.4836-9_4836-7delinsCTG
ENST00000681663.1:n.1745-9_1745-7delinsCTG
ENST00000681692.1:n.2799-9_2799-7delinsCTG
ENST00000681716.1:c.*2693-9_*2693-7delinsCTG	ENSP00000505078.1:n.*2693-9_*2693-7delinsCTG
ENST00000681768.1:c.*2503-9_*2503-7delinsCTG	ENSP00000506311.1:n.*2503-9_*2503-7delinsCTG
ENST00000681808.1:c.4662-9_4662-7delinsCTG	ENSP00000505219.1:n.4662-9_4662-7delinsCTG
ENST00000264276.10:c.4839-9_4839-7delinsCTG	ENSP00000264276.6:n.4839-9_4839-7delinsCTG
ENST00000439495.5:c.2943-9_2943-7delinsCTG
NM_020919.3:c.4839-9_4839-7delinsCTG	NP_065970.2:n.4839-9_4839-7delinsCTG
XM_005246709.2:c.4836-9_4836-7delinsCTG	XP_005246766.1:n.4836-9_4836-7delinsCTG
XM_006712654.1:c.4839-9_4839-7delinsCTG	XP_006712717.1:n.4839-9_4839-7delinsCTG
XM_006712655.2:c.2775-9_2775-7delinsCTG	XP_006712718.1:n.2775-9_2775-7delinsCTG
XM_011511530.1:c.4500-9_4500-7delinsCTG	XP_011509832.1:n.4500-9_4500-7delinsCTG
XR_922974.1:n.5117-9_5117-7delinsCTG
XM_006712654.3:c.4839-9_4839-7delinsCTG	XP_006712717.1:n.4839-9_4839-7delinsCTG
XM_006712655.3:c.2775-9_2775-7delinsCTG	XP_006712718.1:n.2775-9_2775-7delinsCTG
XM_017004569.2:c.4836-9_4836-7delinsCTG	XP_016860058.1:n.4836-9_4836-7delinsCTG
XM_017004572.2:c.2457-9_2457-7delinsCTG	XP_016860061.1:n.2457-9_2457-7delinsCTG
XM_024453024.1:c.4500-9_4500-7delinsCTG	XP_024308792.1:n.4500-9_4500-7delinsCTG
XM_024453025.1:c.2772-9_2772-7delinsCTG	XP_024308793.1:n.2772-9_2772-7delinsCTG
XR_001738864.2:n.4954-9_4954-7delinsCTG
XR_001738865.2:n.4951-9_4951-7delinsCTG
XR_001738866.2:n.5117-9_5117-7delinsCTG
XR_001738867.2:n.5114-9_5114-7delinsCTG
XR_002959320.1:n.4010-9_4010-7delinsCTG
NM_020919.4:c.4839-9_4839-7delinsCTG MANE Select	NP_065970.2:n.4839-9_4839-7delinsCTG