Canonical Allele Identifier: CA2385880551

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667467_31667468delinsTC , CM000683.2:g.31667467_31667468delinsTC	GRCh38
NC_000021.8:g.33039780_33039781delinsTC , CM000683.1:g.33039780_33039781delinsTC	GRCh37
NC_000021.7:g.31961651_31961652delinsTC	NCBI36
NG_008689.1:g.12846_12847delinsTC , LRG_652:g.12846_12847delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+92_357+93delinsTC MANE Select	ENSP00000270142.7:n.357+92_357+93delinsTC
ENST00000270142.10:c.357+92_357+93delinsTC	ENSP00000270142.6:n.357+92_357+93delinsTC
ENST00000389995.4:c.300+92_300+93delinsTC	ENSP00000374645.4:n.300+92_300+93delinsTC
ENST00000470944.1:n.1285+92_1285+93delinsTC
NM_000454.4:c.357+92_357+93delinsTC , LRG_652t1:c.357+92_357+93delinsTC	NP_000445.1:n.357+92_357+93delinsTC
NM_000454.5:c.357+92_357+93delinsTC MANE Select	NP_000445.1:n.357+92_357+93delinsTC