Canonical Allele Identifier: CA2385876736

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31660049_31660072delinsGTGGGACCGAGGCCGCCGCGGGGC , CM000683.2:g.31660049_31660072delinsGTGGGACCGAGGCCGCCGCGGGGC	GRCh38
NC_000021.8:g.33032362_33032385delinsGTGGGACCGAGGCCGCCGCGGGGC , CM000683.1:g.33032362_33032385delinsGTGGGACCGAGGCCGCCGCGGGGC	GRCh37
NC_000021.7:g.31954233_31954256delinsGTGGGACCGAGGCCGCCGCGGGGC	NCBI36
NG_008689.1:g.5428_5451delinsGTGGGACCGAGGCCGCCGCGGGGC , LRG_652:g.5428_5451delinsGTGGGACCGAGGCCGCCGCGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.72+208_72+231delinsGTGGGACCGAGGCCGCCGCGGGGC MANE Select	ENSP00000270142.7:n.72+208_72+231delinsGTGGGACCGAGGCCGCCGCGGG...
ENST00000270142.10:c.72+208_72+231delinsGTGGGACCGAGGCCGCCGCGGGGC	ENSP00000270142.6:n.72+208_72+231delinsGTGGGACCGAGGCCGCCGCGGG...
ENST00000389995.4:c.15+265_15+288delinsGTGGGACCGAGGCCGCCGCGGGGC	ENSP00000374645.4:n.15+265_15+288delinsGTGGGACCGAGGCCGCCGCGGG...
ENST00000470944.1:n.341_364delinsGTGGGACCGAGGCCGCCGCGGGGC
ENST00000476106.5:n.149+208_149+231delinsGTGGGACCGAGGCCGCCGCGGGGC
NM_000454.4:c.72+208_72+231delinsGTGGGACCGAGGCCGCCGCGGGGC , LRG_652t1:c.72+208_72+231delinsGTGGGACCGAGGCCGCCGCGGGGC	NP_000445.1:n.72+208_72+231delinsGTGGGACCGAGGCCGCCGCGGGGC
NM_000454.5:c.72+208_72+231delinsGTGGGACCGAGGCCGCCGCGGGGC MANE Select	NP_000445.1:n.72+208_72+231delinsGTGGGACCGAGGCCGCCGCGGGGC