Canonical Allele Identifier: CA2385880572

Gene: SOD1

Linked Data

• dbSNP Id: rs2049606562

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667522_31667523dup , CM000683.2:g.31667522_31667523dup	GRCh38
NC_000021.8:g.33039835_33039836dup , CM000683.1:g.33039835_33039836dup	GRCh37
NC_000021.7:g.31961706_31961707dup	NCBI36
NG_008689.1:g.12901_12902dup , LRG_652:g.12901_12902dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+147_357+148dup MANE Select	ENSP00000270142.7:n.357+147_357+148dup
ENST00000270142.10:c.357+147_357+148dup	ENSP00000270142.6:n.357+147_357+148dup
ENST00000389995.4:c.300+147_300+148dup	ENSP00000374645.4:n.300+147_300+148dup
ENST00000470944.1:n.1285+147_1285+148dup
NM_000454.4:c.357+147_357+148dup , LRG_652t1:c.357+147_357+148dup	NP_000445.1:n.357+147_357+148dup
NM_000454.5:c.357+147_357+148dup MANE Select	NP_000445.1:n.357+147_357+148dup