Canonical Allele Identifier: CA2385880597

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667566_31667567delinsGT , CM000683.2:g.31667566_31667567delinsGT	GRCh38
NC_000021.8:g.33039879_33039880delinsGT , CM000683.1:g.33039879_33039880delinsGT	GRCh37
NC_000021.7:g.31961750_31961751delinsGT	NCBI36
NG_008689.1:g.12945_12946delinsGT , LRG_652:g.12945_12946delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+191_357+192delinsGT MANE Select	ENSP00000270142.7:n.357+191_357+192delinsGT
ENST00000270142.10:c.357+191_357+192delinsGT	ENSP00000270142.6:n.357+191_357+192delinsGT
ENST00000389995.4:c.300+191_300+192delinsGT	ENSP00000374645.4:n.300+191_300+192delinsGT
ENST00000470944.1:n.1285+191_1285+192delinsGT
NM_000454.4:c.357+191_357+192delinsGT , LRG_652t1:c.357+191_357+192delinsGT	NP_000445.1:n.357+191_357+192delinsGT
NM_000454.5:c.357+191_357+192delinsGT MANE Select	NP_000445.1:n.357+191_357+192delinsGT