Canonical Allele Identifier: CA2662673997

Gene: ALS2

Linked Data

• gnomAD v4: 2-201704224-CCAGAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704225_201704231del , CM000664.2:g.201704225_201704231del	GRCh38
NC_000002.11:g.202568948_202568954del , CM000664.1:g.202568948_202568954del	GRCh37
NC_000002.10:g.202277193_202277199del	NCBI36
NG_008775.1:g.81942_81948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4839-13_4839-7del MANE Select	ENSP00000264276.6:n.4839-13_4839-7del
ENST00000439495.6:c.*1019-13_*1019-7del	ENSP00000403832.2:n.*1019-13_*1019-7del
ENST00000679409.1:c.*1531_*1537del	ENSP00000506531.1:n.*1531_*1537del
ENST00000679416.1:n.6343-13_6343-7del
ENST00000679427.1:n.2497_2503del
ENST00000679435.1:c.4839-13_4839-7del	ENSP00000505218.1:n.4839-13_4839-7del
ENST00000679516.1:c.4839-13_4839-7del	ENSP00000505187.1:n.4839-13_4839-7del
ENST00000679618.1:c.*1927-13_*1927-7del	ENSP00000506274.1:n.*1927-13_*1927-7del
ENST00000679630.1:n.6688-13_6688-7del
ENST00000679635.1:n.3088_3094del
ENST00000679686.1:n.4953-13_4953-7del
ENST00000679701.1:n.7831-13_7831-7del
ENST00000679916.1:c.*1187-13_*1187-7del	ENSP00000506172.1:n.*1187-13_*1187-7del
ENST00000680000.1:c.4839-13_4839-7del	ENSP00000506173.1:n.4839-13_4839-7del
ENST00000680135.1:c.*2800-13_*2800-7del	ENSP00000506211.1:n.*2800-13_*2800-7del
ENST00000680149.1:c.*121-13_*121-7del	ENSP00000506497.1:n.*121-13_*121-7del
ENST00000680163.1:c.4839-13_4839-7del	ENSP00000505092.1:n.4839-13_4839-7del
ENST00000680174.1:n.5530-13_5530-7del
ENST00000680236.1:c.*1900-13_*1900-7del	ENSP00000506212.1:n.*1900-13_*1900-7del
ENST00000680404.1:n.354-13_354-7del
ENST00000680441.1:n.3397-13_3397-7del
ENST00000680497.1:c.4941-13_4941-7del	ENSP00000505954.1:n.4941-13_4941-7del
ENST00000680508.1:c.4845_4851del	ENSP00000505749.1:p.Phe1615LeufsTer?
ENST00000680569.1:c.*2769_*2775del	ENSP00000505522.1:n.*2769_*2775del
ENST00000680634.1:n.1347-13_1347-7del
ENST00000680722.1:n.2639-13_2639-7del
ENST00000680726.1:c.*121-13_*121-7del	ENSP00000505505.1:n.*121-13_*121-7del
ENST00000680759.1:c.4671-13_4671-7del	ENSP00000505848.1:n.4671-13_4671-7del
ENST00000680814.1:c.4838+223_4838+229del	ENSP00000505710.1:n.4838+223_4838+229del
ENST00000680828.1:c.*2533-13_*2533-7del	ENSP00000505249.1:n.*2533-13_*2533-7del
ENST00000680861.1:c.4839-13_4839-7del	ENSP00000505043.1:n.4839-13_4839-7del
ENST00000680927.1:c.*1019-13_*1019-7del	ENSP00000505473.1:n.*1019-13_*1019-7del
ENST00000680939.1:n.6767_6773del
ENST00000681250.1:c.*1556-13_*1556-7del	ENSP00000505684.1:n.*1556-13_*1556-7del
ENST00000681256.1:c.*2854-13_*2854-7del	ENSP00000505446.1:n.*2854-13_*2854-7del
ENST00000681279.1:n.5705-13_5705-7del
ENST00000681307.1:n.5952-13_5952-7del
ENST00000681461.1:n.5607-13_5607-7del
ENST00000681495.1:c.2376-13_2376-7del	ENSP00000506085.1:n.2376-13_2376-7del
ENST00000681558.1:c.2517-13_2517-7del	ENSP00000505568.1:n.2517-13_2517-7del
ENST00000681619.1:c.4836-13_4836-7del	ENSP00000505071.1:n.4836-13_4836-7del
ENST00000681663.1:n.1745-13_1745-7del
ENST00000681692.1:n.2799-13_2799-7del
ENST00000681716.1:c.*2693-13_*2693-7del	ENSP00000505078.1:n.*2693-13_*2693-7del
ENST00000681768.1:c.*2503-13_*2503-7del	ENSP00000506311.1:n.*2503-13_*2503-7del
ENST00000681808.1:c.4662-13_4662-7del	ENSP00000505219.1:n.4662-13_4662-7del
ENST00000264276.10:c.4839-13_4839-7del	ENSP00000264276.6:n.4839-13_4839-7del
ENST00000439495.5:c.2943-13_2943-7del
NM_020919.3:c.4839-13_4839-7del	NP_065970.2:n.4839-13_4839-7del
XM_005246709.2:c.4836-13_4836-7del	XP_005246766.1:n.4836-13_4836-7del
XM_006712654.1:c.4839-13_4839-7del	XP_006712717.1:n.4839-13_4839-7del
XM_006712655.2:c.2775-13_2775-7del	XP_006712718.1:n.2775-13_2775-7del
XM_011511530.1:c.4500-13_4500-7del	XP_011509832.1:n.4500-13_4500-7del
XR_922974.1:n.5117-13_5117-7del
XM_006712654.3:c.4839-13_4839-7del	XP_006712717.1:n.4839-13_4839-7del
XM_006712655.3:c.2775-13_2775-7del	XP_006712718.1:n.2775-13_2775-7del
XM_017004569.2:c.4836-13_4836-7del	XP_016860058.1:n.4836-13_4836-7del
XM_017004572.2:c.2457-13_2457-7del	XP_016860061.1:n.2457-13_2457-7del
XM_024453024.1:c.4500-13_4500-7del	XP_024308792.1:n.4500-13_4500-7del
XM_024453025.1:c.2772-13_2772-7del	XP_024308793.1:n.2772-13_2772-7del
XR_001738864.2:n.4954-13_4954-7del
XR_001738865.2:n.4951-13_4951-7del
XR_001738866.2:n.5117-13_5117-7del
XR_001738867.2:n.5114-13_5114-7del
XR_002959320.1:n.4010-13_4010-7del
NM_020919.4:c.4839-13_4839-7del MANE Select	NP_065970.2:n.4839-13_4839-7del