Canonical Allele Identifier: CA1321181778
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201723334_201723335delinsAT , CM000664.2:g.201723334_201723335delinsAT GRCh38
NC_000002.11:g.202588057_202588058delinsAT , CM000664.1:g.202588057_202588058delinsAT GRCh37
NC_000002.10:g.202296302_202296303delinsAT NCBI36
NG_008775.1:g.62838_62839delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000264276.11:c.3619_3620delinsAT MANE Select ENSP00000264276.6:p.Met1207=
ENST00000439495.6:c.1297_1298delinsAT ENSP00000403832.2:p.Met433=
ENST00000482891.6:n.4387_4388delinsAT
ENST00000494017.6:n.1351_1352delinsAT
ENST00000679409.1:c.1297_1298delinsAT ENSP00000506531.1:p.Met433=
ENST00000679416.1:n.5123_5124delinsAT
ENST00000679435.1:c.3619_3620delinsAT ENSP00000505218.1:p.Met1207=
ENST00000679516.1:c.3619_3620delinsAT ENSP00000505187.1:p.Met1207=
ENST00000679618.1:c.*707_*708delinsAT ENSP00000506274.1:n.*707_*708delinsAT
ENST00000679630.1:n.5468_5469delinsAT
ENST00000679686.1:n.3733_3734delinsAT
ENST00000679701.1:n.6611_6612delinsAT
ENST00000679916.1:c.3619_3620delinsAT ENSP00000506172.1:p.Met1207=
ENST00000680000.1:c.3619_3620delinsAT ENSP00000506173.1:p.Met1207=
ENST00000680135.1:c.*1583_*1584delinsAT ENSP00000506211.1:n.*1583_*1584delinsAT
ENST00000680149.1:c.3619_3620delinsAT ENSP00000506497.1:p.Met1207=
ENST00000680163.1:c.3619_3620delinsAT ENSP00000505092.1:p.Met1207=
ENST00000680174.1:n.4310_4311delinsAT
ENST00000680236.1:c.*680_*681delinsAT ENSP00000506212.1:n.*680_*681delinsAT
ENST00000680497.1:c.3721_3722delinsAT ENSP00000505954.1:p.Met1241=
ENST00000680508.1:c.3619_3620delinsAT ENSP00000505749.1:p.Met1207=
ENST00000680569.1:c.*1330_*1331delinsAT ENSP00000505522.1:n.*1330_*1331delinsAT
ENST00000680630.1:n.4051_4052delinsAT
ENST00000680634.1:n.21-2846_21-2845delinsAT
ENST00000680722.1:n.1419_1420delinsAT
ENST00000680723.1:n.4402_4403delinsAT
ENST00000680726.1:c.3619_3620delinsAT ENSP00000505505.1:p.Met1207=
ENST00000680737.1:n.3890_3891delinsAT
ENST00000680759.1:c.3619_3620delinsAT ENSP00000505848.1:p.Met1207=
ENST00000680814.1:c.3619_3620delinsAT ENSP00000505710.1:p.Met1207=
ENST00000680828.1:c.*1191_*1192delinsAT ENSP00000505249.1:n.*1191_*1192delinsAT
ENST00000680861.1:c.3619_3620delinsAT ENSP00000505043.1:p.Met1207=
ENST00000680927.1:c.3619_3620delinsAT ENSP00000505473.1:p.Met1207=
ENST00000680939.1:n.3961_3962delinsAT
ENST00000681152.1:c.3619_3620delinsAT ENSP00000505388.1:p.Met1207=
ENST00000681250.1:c.*336_*337delinsAT ENSP00000505684.1:n.*336_*337delinsAT
ENST00000681256.1:c.*1637_*1638delinsAT ENSP00000505446.1:n.*1637_*1638delinsAT
ENST00000681279.1:n.4387_4388delinsAT
ENST00000681303.1:c.3619_3620delinsAT ENSP00000505576.1:p.Met1207=
ENST00000681307.1:n.4732_4733delinsAT
ENST00000681461.1:n.4387_4388delinsAT
ENST00000681495.1:c.1159_1160delinsAT ENSP00000506085.1:p.Met387=
ENST00000681558.1:c.1297_1298delinsAT ENSP00000505568.1:p.Met433=
ENST00000681619.1:c.3619_3620delinsAT ENSP00000505071.1:p.Met1207=
ENST00000681716.1:c.*1330_*1331delinsAT ENSP00000505078.1:n.*1330_*1331delinsAT
ENST00000681758.1:n.3961_3962delinsAT
ENST00000681768.1:c.*1283_*1284delinsAT ENSP00000506311.1:n.*1283_*1284delinsAT
ENST00000681808.1:c.3619_3620delinsAT ENSP00000505219.1:p.Met1207=
ENST00000264276.10:c.3619_3620delinsAT ENSP00000264276.6:p.Met1207=
ENST00000439495.5:c.1580_1581delinsAT
ENST00000482891.5:n.3759_3760delinsAT
ENST00000489440.5:n.440_441delinsAT
NM_020919.3:c.3619_3620delinsAT NP_065970.2:p.Met1207=
XM_005246709.2:c.3619_3620delinsAT XP_005246766.1:p.Met1207=
XM_006712654.1:c.3619_3620delinsAT XP_006712717.1:p.Met1207=
XM_006712655.2:c.1555_1556delinsAT XP_006712718.1:p.Met519=
XM_011511530.1:c.3280_3281delinsAT XP_011509832.1:p.Met1094=
XM_011511531.1:c.3619_3620delinsAT XP_011509833.1:p.Met1207=
XR_922974.1:n.3754_3755delinsAT
XM_006712654.3:c.3619_3620delinsAT XP_006712717.1:p.Met1207=
XM_006712655.3:c.1555_1556delinsAT XP_006712718.1:p.Met519=
XM_017004569.2:c.3619_3620delinsAT XP_016860058.1:p.Met1207=
XM_017004570.2:c.3619_3620delinsAT XP_016860059.1:p.Met1207=
XM_017004572.2:c.1237_1238delinsAT XP_016860061.1:p.Met413=
XM_024453024.1:c.3280_3281delinsAT XP_024308792.1:p.Met1094=
XM_024453025.1:c.1555_1556delinsAT XP_024308793.1:p.Met519=
XR_001738864.2:n.3754_3755delinsAT
XR_001738865.2:n.3754_3755delinsAT
XR_001738866.2:n.3754_3755delinsAT
XR_001738867.2:n.3754_3755delinsAT
XR_002959320.1:n.2810_2811delinsAT
NM_020919.4:c.3619_3620delinsAT MANE Select NP_065970.2:p.Met1207=