Canonical Allele Identifier: CA2385880594

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667564_31667566delinsCTG , CM000683.2:g.31667564_31667566delinsCTG	GRCh38
NC_000021.8:g.33039877_33039879delinsCTG , CM000683.1:g.33039877_33039879delinsCTG	GRCh37
NC_000021.7:g.31961748_31961750delinsCTG	NCBI36
NG_008689.1:g.12943_12945delinsCTG , LRG_652:g.12943_12945delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+189_357+191delinsCTG MANE Select	ENSP00000270142.7:n.357+189_357+191delinsCTG
ENST00000270142.10:c.357+189_357+191delinsCTG	ENSP00000270142.6:n.357+189_357+191delinsCTG
ENST00000389995.4:c.300+189_300+191delinsCTG	ENSP00000374645.4:n.300+189_300+191delinsCTG
ENST00000470944.1:n.1285+189_1285+191delinsCTG
NM_000454.4:c.357+189_357+191delinsCTG , LRG_652t1:c.357+189_357+191delinsCTG	NP_000445.1:n.357+189_357+191delinsCTG
NM_000454.5:c.357+189_357+191delinsCTG MANE Select	NP_000445.1:n.357+189_357+191delinsCTG