Canonical Allele Identifier: CA2385880633

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667639_31667645delinsCTTTAGT , CM000683.2:g.31667639_31667645delinsCTTTAGT	GRCh38
NC_000021.8:g.33039952_33039958delinsCTTTAGT , CM000683.1:g.33039952_33039958delinsCTTTAGT	GRCh37
NC_000021.7:g.31961823_31961829delinsCTTTAGT	NCBI36
NG_008689.1:g.13018_13024delinsCTTTAGT , LRG_652:g.13018_13024delinsCTTTAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+264_357+270delinsCTTTAGT MANE Select	ENSP00000270142.7:n.357+264_357+270delinsCTTTAGT
ENST00000270142.10:c.357+264_357+270delinsCTTTAGT	ENSP00000270142.6:n.357+264_357+270delinsCTTTAGT
ENST00000389995.4:c.300+264_300+270delinsCTTTAGT	ENSP00000374645.4:n.300+264_300+270delinsCTTTAGT
ENST00000470944.1:n.1285+264_1285+270delinsCTTTAGT
NM_000454.4:c.357+264_357+270delinsCTTTAGT , LRG_652t1:c.357+264_357+270delinsCTTTAGT	NP_000445.1:n.357+264_357+270delinsCTTTAGT
NM_000454.5:c.357+264_357+270delinsCTTTAGT MANE Select	NP_000445.1:n.357+264_357+270delinsCTTTAGT