Canonical Allele Identifier: CA2385880659

Gene: SOD1

Linked Data

• dbSNP Id: rs1661262250

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667714_31667737dup , CM000683.2:g.31667714_31667737dup	GRCh38
NC_000021.8:g.33040027_33040050dup , CM000683.1:g.33040027_33040050dup	GRCh37
NC_000021.7:g.31961898_31961921dup	NCBI36
NG_008689.1:g.13093_13116dup , LRG_652:g.13093_13116dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+339_357+362dup MANE Select	ENSP00000270142.7:n.357+339_357+362dup
ENST00000270142.10:c.357+339_357+362dup	ENSP00000270142.6:n.357+339_357+362dup
ENST00000389995.4:c.300+339_300+362dup	ENSP00000374645.4:n.300+339_300+362dup
ENST00000470944.1:n.1285+339_1285+362dup
NM_000454.4:c.357+339_357+362dup , LRG_652t1:c.357+339_357+362dup	NP_000445.1:n.357+339_357+362dup
NM_000454.5:c.357+339_357+362dup MANE Select	NP_000445.1:n.357+339_357+362dup