Canonical Allele Identifier: CA2385880488
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667387_31667388delinsTA , CM000683.2:g.31667387_31667388delinsTA GRCh38
NC_000021.8:g.33039700_33039701delinsTA , CM000683.1:g.33039700_33039701delinsTA GRCh37
NC_000021.7:g.31961571_31961572delinsTA NCBI36
NG_008689.1:g.12766_12767delinsTA , LRG_652:g.12766_12767delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+12_357+13delinsTA MANE Select ENSP00000270142.7:n.357+12_357+13delinsTA
ENST00000270142.10:c.357+12_357+13delinsTA ENSP00000270142.6:n.357+12_357+13delinsTA
ENST00000389995.4:c.300+12_300+13delinsTA ENSP00000374645.4:n.300+12_300+13delinsTA
ENST00000470944.1:n.1285+12_1285+13delinsTA
NM_000454.4:c.357+12_357+13delinsTA , LRG_652t1:c.357+12_357+13delinsTA NP_000445.1:n.357+12_357+13delinsTA
NM_000454.5:c.357+12_357+13delinsTA MANE Select NP_000445.1:n.357+12_357+13delinsTA