Canonical Allele Identifier: CA2385876781

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31660110_31660120delinsCGCGGGCCGGG , CM000683.2:g.31660110_31660120delinsCGCGGGCCGGG	GRCh38
NC_000021.8:g.33032423_33032433delinsCGCGGGCCGGG , CM000683.1:g.33032423_33032433delinsCGCGGGCCGGG	GRCh37
NC_000021.7:g.31954294_31954304delinsCGCGGGCCGGG	NCBI36
NG_008689.1:g.5489_5499delinsCGCGGGCCGGG , LRG_652:g.5489_5499delinsCGCGGGCCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.72+269_72+279delinsCGCGGGCCGGG MANE Select	ENSP00000270142.7:n.72+269_72+279delinsCGCGGGCCGGG
ENST00000270142.10:c.72+269_72+279delinsCGCGGGCCGGG	ENSP00000270142.6:n.72+269_72+279delinsCGCGGGCCGGG
ENST00000389995.4:c.15+326_15+336delinsCGCGGGCCGGG	ENSP00000374645.4:n.15+326_15+336delinsCGCGGGCCGGG
ENST00000470944.1:n.402_412delinsCGCGGGCCGGG
ENST00000476106.5:n.149+269_149+279delinsCGCGGGCCGGG
NM_000454.4:c.72+269_72+279delinsCGCGGGCCGGG , LRG_652t1:c.72+269_72+279delinsCGCGGGCCGGG	NP_000445.1:n.72+269_72+279delinsCGCGGGCCGGG
NM_000454.5:c.72+269_72+279delinsCGCGGGCCGGG MANE Select	NP_000445.1:n.72+269_72+279delinsCGCGGGCCGGG