Canonical Allele Identifier: CA2662676529

Gene: ALS2

Linked Data

• gnomAD v4: 2-201723381-AACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723387_201723389del , CM000664.2:g.201723387_201723389del	GRCh38
NC_000002.11:g.202588110_202588112del , CM000664.1:g.202588110_202588112del	GRCh37
NC_000002.10:g.202296355_202296357del	NCBI36
NG_008775.1:g.62789_62791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3570_3572del MANE Select	ENSP00000264276.6:p.Val1191del
ENST00000439495.6:c.1248_1250del	ENSP00000403832.2:p.Val417del
ENST00000482891.6:n.4338_4340del
ENST00000494017.6:n.1302_1304del
ENST00000679409.1:c.1248_1250del	ENSP00000506531.1:p.Val417del
ENST00000679416.1:n.5074_5076del
ENST00000679435.1:c.3570_3572del	ENSP00000505218.1:p.Val1191del
ENST00000679516.1:c.3570_3572del	ENSP00000505187.1:p.Val1191del
ENST00000679618.1:c.*658_*660del	ENSP00000506274.1:n.*658_*660del
ENST00000679630.1:n.5419_5421del
ENST00000679686.1:n.3684_3686del
ENST00000679701.1:n.6562_6564del
ENST00000679916.1:c.3570_3572del	ENSP00000506172.1:p.Val1191del
ENST00000680000.1:c.3570_3572del	ENSP00000506173.1:p.Val1191del
ENST00000680135.1:c.*1534_*1536del	ENSP00000506211.1:n.*1534_*1536del
ENST00000680149.1:c.3570_3572del	ENSP00000506497.1:p.Val1191del
ENST00000680163.1:c.3570_3572del	ENSP00000505092.1:p.Val1191del
ENST00000680174.1:n.4261_4263del
ENST00000680236.1:c.*631_*633del	ENSP00000506212.1:n.*631_*633del
ENST00000680497.1:c.3672_3674del	ENSP00000505954.1:p.Val1225del
ENST00000680508.1:c.3570_3572del	ENSP00000505749.1:p.Val1191del
ENST00000680569.1:c.*1281_*1283del	ENSP00000505522.1:n.*1281_*1283del
ENST00000680630.1:n.4002_4004del
ENST00000680634.1:n.21-2895_21-2893del
ENST00000680722.1:n.1370_1372del
ENST00000680723.1:n.4353_4355del
ENST00000680726.1:c.3570_3572del	ENSP00000505505.1:p.Val1191del
ENST00000680737.1:n.3841_3843del
ENST00000680759.1:c.3570_3572del	ENSP00000505848.1:p.Val1191del
ENST00000680814.1:c.3570_3572del	ENSP00000505710.1:p.Val1191del
ENST00000680828.1:c.*1142_*1144del	ENSP00000505249.1:n.*1142_*1144del
ENST00000680861.1:c.3570_3572del	ENSP00000505043.1:p.Val1191del
ENST00000680927.1:c.3570_3572del	ENSP00000505473.1:p.Val1191del
ENST00000680939.1:n.3912_3914del
ENST00000681152.1:c.3570_3572del	ENSP00000505388.1:p.Val1191del
ENST00000681250.1:c.*287_*289del	ENSP00000505684.1:n.*287_*289del
ENST00000681256.1:c.*1588_*1590del	ENSP00000505446.1:n.*1588_*1590del
ENST00000681279.1:n.4338_4340del
ENST00000681303.1:c.3570_3572del	ENSP00000505576.1:p.Val1191del
ENST00000681307.1:n.4683_4685del
ENST00000681461.1:n.4338_4340del
ENST00000681495.1:c.1110_1112del	ENSP00000506085.1:p.Val371del
ENST00000681558.1:c.1248_1250del	ENSP00000505568.1:p.Val417del
ENST00000681619.1:c.3570_3572del	ENSP00000505071.1:p.Val1191del
ENST00000681716.1:c.*1281_*1283del	ENSP00000505078.1:n.*1281_*1283del
ENST00000681758.1:n.3912_3914del
ENST00000681768.1:c.*1234_*1236del	ENSP00000506311.1:n.*1234_*1236del
ENST00000681808.1:c.3570_3572del	ENSP00000505219.1:p.Val1191del
ENST00000264276.10:c.3570_3572del	ENSP00000264276.6:p.Val1191del
ENST00000439495.5:c.1531_1533del
ENST00000482891.5:n.3710_3712del
ENST00000489440.5:n.391_393del
NM_020919.3:c.3570_3572del	NP_065970.2:p.Val1191del
XM_005246709.2:c.3570_3572del	XP_005246766.1:p.Val1191del
XM_006712654.1:c.3570_3572del	XP_006712717.1:p.Val1191del
XM_006712655.2:c.1506_1508del	XP_006712718.1:p.Val503del
XM_011511530.1:c.3231_3233del	XP_011509832.1:p.Val1078del
XM_011511531.1:c.3570_3572del	XP_011509833.1:p.Val1191del
XR_922974.1:n.3705_3707del
XM_006712654.3:c.3570_3572del	XP_006712717.1:p.Val1191del
XM_006712655.3:c.1506_1508del	XP_006712718.1:p.Val503del
XM_017004569.2:c.3570_3572del	XP_016860058.1:p.Val1191del
XM_017004570.2:c.3570_3572del	XP_016860059.1:p.Val1191del
XM_017004572.2:c.1188_1190del	XP_016860061.1:p.Val397del
XM_024453024.1:c.3231_3233del	XP_024308792.1:p.Val1078del
XM_024453025.1:c.1506_1508del	XP_024308793.1:p.Val503del
XR_001738864.2:n.3705_3707del
XR_001738865.2:n.3705_3707del
XR_001738866.2:n.3705_3707del
XR_001738867.2:n.3705_3707del
XR_002959320.1:n.2761_2763del
NM_020919.4:c.3570_3572del MANE Select	NP_065970.2:p.Val1191del