Canonical Allele Identifier: CA2385878840

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663975_31663979delinsCTTGT , CM000683.2:g.31663975_31663979delinsCTTGT	GRCh38
NC_000021.8:g.33036288_33036292delinsCTTGT , CM000683.1:g.33036288_33036292delinsCTTGT	GRCh37
NC_000021.7:g.31958159_31958163delinsCTTGT	NCBI36
NG_008689.1:g.9354_9358delinsCTTGT , LRG_652:g.9354_9358delinsCTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.169+89_169+93delinsCTTGT MANE Select	ENSP00000270142.7:n.169+89_169+93delinsCTTGT
ENST00000270142.10:c.169+89_169+93delinsCTTGT	ENSP00000270142.6:n.169+89_169+93delinsCTTGT
ENST00000389995.4:c.112+89_112+93delinsCTTGT	ENSP00000374645.4:n.112+89_112+93delinsCTTGT
ENST00000470944.1:n.1097+89_1097+93delinsCTTGT
ENST00000476106.5:n.432+89_432+93delinsCTTGT
NM_000454.4:c.169+89_169+93delinsCTTGT , LRG_652t1:c.169+89_169+93delinsCTTGT	NP_000445.1:n.169+89_169+93delinsCTTGT
NM_000454.5:c.169+89_169+93delinsCTTGT MANE Select	NP_000445.1:n.169+89_169+93delinsCTTGT