Canonical Allele Identifier: CA1321156468

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704075_201704079delinsAAGAC , CM000664.2:g.201704075_201704079delinsAAGAC	GRCh38
NC_000002.11:g.202568798_202568802delinsAAGAC , CM000664.1:g.202568798_202568802delinsAAGAC	GRCh37
NC_000002.10:g.202277043_202277047delinsAAGAC	NCBI36
NG_008775.1:g.82094_82098delinsGTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4935+43_4935+47delinsGTCTT MANE Select	ENSP00000264276.6:n.4935+43_4935+47delinsGTCTT
ENST00000439495.6:c.*1115+43_*1115+47delinsGTCTT	ENSP00000403832.2:n.*1115+43_*1115+47delinsGTCTT
ENST00000679409.1:c.*1683_*1687delinsGTCTT	ENSP00000506531.1:n.*1683_*1687delinsGTCTT
ENST00000679416.1:n.6439+43_6439+47delinsGTCTT
ENST00000679427.1:n.2649_2653delinsGTCTT
ENST00000679435.1:c.4935+43_4935+47delinsGTCTT	ENSP00000505218.1:n.4935+43_4935+47delinsGTCTT
ENST00000679516.1:c.4935+43_4935+47delinsGTCTT	ENSP00000505187.1:n.4935+43_4935+47delinsGTCTT
ENST00000679618.1:c.*2023+43_*2023+47delinsGTCTT	ENSP00000506274.1:n.*2023+43_*2023+47delinsGTCTT
ENST00000679630.1:n.6784+43_6784+47delinsGTCTT
ENST00000679635.1:n.3197+43_3197+47delinsGTCTT
ENST00000679686.1:n.5049+43_5049+47delinsGTCTT
ENST00000679701.1:n.7927+43_7927+47delinsGTCTT
ENST00000679916.1:c.*1283+43_*1283+47delinsGTCTT	ENSP00000506172.1:n.*1283+43_*1283+47delinsGTCTT
ENST00000680000.1:c.*22_*26delinsGTCTT	ENSP00000506173.1:n.*22_*26delinsGTCTT
ENST00000680135.1:c.*2896+43_*2896+47delinsGTCTT	ENSP00000506211.1:n.*2896+43_*2896+47delinsGTCTT
ENST00000680149.1:c.*217+43_*217+47delinsGTCTT	ENSP00000506497.1:n.*217+43_*217+47delinsGTCTT
ENST00000680163.1:c.4935+43_4935+47delinsGTCTT	ENSP00000505092.1:n.4935+43_4935+47delinsGTCTT
ENST00000680174.1:n.5626+43_5626+47delinsGTCTT
ENST00000680236.1:c.*1996+43_*1996+47delinsGTCTT	ENSP00000506212.1:n.*1996+43_*1996+47delinsGTCTT
ENST00000680404.1:n.493_497delinsGTCTT
ENST00000680441.1:n.3493+43_3493+47delinsGTCTT
ENST00000680497.1:c.5037+43_5037+47delinsGTCTT	ENSP00000505954.1:n.5037+43_5037+47delinsGTCTT
ENST00000680508.1:c.*91+43_*91+47delinsGTCTT	ENSP00000505749.1:n.*91+43_*91+47delinsGTCTT
ENST00000680569.1:c.*2878+43_*2878+47delinsGTCTT	ENSP00000505522.1:n.*2878+43_*2878+47delinsGTCTT
ENST00000680634.1:n.1443+43_1443+47delinsGTCTT
ENST00000680722.1:n.2735+43_2735+47delinsGTCTT
ENST00000680726.1:c.*217+43_*217+47delinsGTCTT	ENSP00000505505.1:n.*217+43_*217+47delinsGTCTT
ENST00000680759.1:c.4767+43_4767+47delinsGTCTT	ENSP00000505848.1:n.4767+43_4767+47delinsGTCTT
ENST00000680814.1:c.4838+375_4838+379delinsGTCTT	ENSP00000505710.1:n.4838+375_4838+379delinsGTCTT
ENST00000680828.1:c.*2629+43_*2629+47delinsGTCTT	ENSP00000505249.1:n.*2629+43_*2629+47delinsGTCTT
ENST00000680861.1:c.4935+43_4935+47delinsGTCTT	ENSP00000505043.1:n.4935+43_4935+47delinsGTCTT
ENST00000680927.1:c.*1115+43_*1115+47delinsGTCTT	ENSP00000505473.1:n.*1115+43_*1115+47delinsGTCTT
ENST00000680939.1:n.6919_6923delinsGTCTT
ENST00000681250.1:c.*1652+43_*1652+47delinsGTCTT	ENSP00000505684.1:n.*1652+43_*1652+47delinsGTCTT
ENST00000681256.1:c.*2950+43_*2950+47delinsGTCTT	ENSP00000505446.1:n.*2950+43_*2950+47delinsGTCTT
ENST00000681279.1:n.5801+43_5801+47delinsGTCTT
ENST00000681307.1:n.6048+43_6048+47delinsGTCTT
ENST00000681461.1:n.5703+43_5703+47delinsGTCTT
ENST00000681495.1:c.2472+43_2472+47delinsGTCTT	ENSP00000506085.1:n.2472+43_2472+47delinsGTCTT
ENST00000681558.1:c.2613+43_2613+47delinsGTCTT	ENSP00000505568.1:n.2613+43_2613+47delinsGTCTT
ENST00000681619.1:c.4932+43_4932+47delinsGTCTT	ENSP00000505071.1:n.4932+43_4932+47delinsGTCTT
ENST00000681663.1:n.1841+43_1841+47delinsGTCTT
ENST00000681692.1:n.2895+43_2895+47delinsGTCTT
ENST00000681716.1:c.*2789+43_*2789+47delinsGTCTT	ENSP00000505078.1:n.*2789+43_*2789+47delinsGTCTT
ENST00000681768.1:c.*2599+43_*2599+47delinsGTCTT	ENSP00000506311.1:n.*2599+43_*2599+47delinsGTCTT
ENST00000681808.1:c.4758+43_4758+47delinsGTCTT	ENSP00000505219.1:n.4758+43_4758+47delinsGTCTT
ENST00000264276.10:c.4935+43_4935+47delinsGTCTT	ENSP00000264276.6:n.4935+43_4935+47delinsGTCTT
ENST00000439495.5:c.3039+43_3039+47delinsGTCTT
NM_020919.3:c.4935+43_4935+47delinsGTCTT	NP_065970.2:n.4935+43_4935+47delinsGTCTT
XM_005246709.2:c.4932+43_4932+47delinsGTCTT	XP_005246766.1:n.4932+43_4932+47delinsGTCTT
XM_006712654.1:c.4935+43_4935+47delinsGTCTT	XP_006712717.1:n.4935+43_4935+47delinsGTCTT
XM_006712655.2:c.2871+43_2871+47delinsGTCTT	XP_006712718.1:n.2871+43_2871+47delinsGTCTT
XM_011511530.1:c.4596+43_4596+47delinsGTCTT	XP_011509832.1:n.4596+43_4596+47delinsGTCTT
XR_922974.1:n.5213+43_5213+47delinsGTCTT
XM_006712654.3:c.4935+43_4935+47delinsGTCTT	XP_006712717.1:n.4935+43_4935+47delinsGTCTT
XM_006712655.3:c.2871+43_2871+47delinsGTCTT	XP_006712718.1:n.2871+43_2871+47delinsGTCTT
XM_017004569.2:c.4932+43_4932+47delinsGTCTT	XP_016860058.1:n.4932+43_4932+47delinsGTCTT
XM_017004572.2:c.2553+43_2553+47delinsGTCTT	XP_016860061.1:n.2553+43_2553+47delinsGTCTT
XM_024453024.1:c.4596+43_4596+47delinsGTCTT	XP_024308792.1:n.4596+43_4596+47delinsGTCTT
XM_024453025.1:c.2868+43_2868+47delinsGTCTT	XP_024308793.1:n.2868+43_2868+47delinsGTCTT
XR_001738864.2:n.5050+43_5050+47delinsGTCTT
XR_001738865.2:n.5047+43_5047+47delinsGTCTT
XR_001738866.2:n.5213+43_5213+47delinsGTCTT
XR_001738867.2:n.5210+43_5210+47delinsGTCTT
XR_002959320.1:n.4106+43_4106+47delinsGTCTT
NM_020919.4:c.4935+43_4935+47delinsGTCTT MANE Select	NP_065970.2:n.4935+43_4935+47delinsGTCTT