Canonical Allele Identifier: CA2385880353

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667129_31667132delinsTGTA , CM000683.2:g.31667129_31667132delinsTGTA	GRCh38
NC_000021.8:g.33039442_33039445delinsTGTA , CM000683.1:g.33039442_33039445delinsTGTA	GRCh37
NC_000021.7:g.31961313_31961316delinsTGTA	NCBI36
NG_008689.1:g.12508_12511delinsTGTA , LRG_652:g.12508_12511delinsTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.240-129_240-126delinsTGTA MANE Select	ENSP00000270142.7:n.240-129_240-126delinsTGTA
ENST00000270142.10:c.240-129_240-126delinsTGTA	ENSP00000270142.6:n.240-129_240-126delinsTGTA
ENST00000389995.4:c.183-129_183-126delinsTGTA	ENSP00000374645.4:n.183-129_183-126delinsTGTA
ENST00000470944.1:n.1168-129_1168-126delinsTGTA
ENST00000476106.5:n.503-129_503-126delinsTGTA
NM_000454.4:c.240-129_240-126delinsTGTA , LRG_652t1:c.240-129_240-126delinsTGTA	NP_000445.1:n.240-129_240-126delinsTGTA
NM_000454.5:c.240-129_240-126delinsTGTA MANE Select	NP_000445.1:n.240-129_240-126delinsTGTA