Canonical Allele Identifier: CA2385880517

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667418_31667420delinsTAC , CM000683.2:g.31667418_31667420delinsTAC	GRCh38
NC_000021.8:g.33039731_33039733delinsTAC , CM000683.1:g.33039731_33039733delinsTAC	GRCh37
NC_000021.7:g.31961602_31961604delinsTAC	NCBI36
NG_008689.1:g.12797_12799delinsTAC , LRG_652:g.12797_12799delinsTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+43_357+45delinsTAC MANE Select	ENSP00000270142.7:n.357+43_357+45delinsTAC
ENST00000270142.10:c.357+43_357+45delinsTAC	ENSP00000270142.6:n.357+43_357+45delinsTAC
ENST00000389995.4:c.300+43_300+45delinsTAC	ENSP00000374645.4:n.300+43_300+45delinsTAC
ENST00000470944.1:n.1285+43_1285+45delinsTAC
NM_000454.4:c.357+43_357+45delinsTAC , LRG_652t1:c.357+43_357+45delinsTAC	NP_000445.1:n.357+43_357+45delinsTAC
NM_000454.5:c.357+43_357+45delinsTAC MANE Select	NP_000445.1:n.357+43_357+45delinsTAC