Canonical Allele Identifier: CA2385876756

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31660073_31660074delinsTG , CM000683.2:g.31660073_31660074delinsTG	GRCh38
NC_000021.8:g.33032386_33032387delinsTG , CM000683.1:g.33032386_33032387delinsTG	GRCh37
NC_000021.7:g.31954257_31954258delinsTG	NCBI36
NG_008689.1:g.5452_5453delinsTG , LRG_652:g.5452_5453delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.72+232_72+233delinsTG MANE Select	ENSP00000270142.7:n.72+232_72+233delinsTG
ENST00000270142.10:c.72+232_72+233delinsTG	ENSP00000270142.6:n.72+232_72+233delinsTG
ENST00000389995.4:c.15+289_15+290delinsTG	ENSP00000374645.4:n.15+289_15+290delinsTG
ENST00000470944.1:n.365_366delinsTG
ENST00000476106.5:n.149+232_149+233delinsTG
NM_000454.4:c.72+232_72+233delinsTG , LRG_652t1:c.72+232_72+233delinsTG	NP_000445.1:n.72+232_72+233delinsTG
NM_000454.5:c.72+232_72+233delinsTG MANE Select	NP_000445.1:n.72+232_72+233delinsTG