Canonical Allele Identifier: CA2817692712

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667391_31667392dup , CM000683.2:g.31667391_31667392dup	GRCh38
NC_000021.8:g.33039704_33039705dup , CM000683.1:g.33039704_33039705dup	GRCh37
NC_000021.7:g.31961575_31961576dup	NCBI36
NG_008689.1:g.12770_12771dup , LRG_652:g.12770_12771dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+16_357+17dup MANE Select	ENSP00000270142.7:n.357+16_357+17dup
ENST00000270142.10:c.357+16_357+17dup	ENSP00000270142.6:n.357+16_357+17dup
ENST00000389995.4:c.300+16_300+17dup	ENSP00000374645.4:n.300+16_300+17dup
ENST00000470944.1:n.1285+16_1285+17dup
NM_000454.4:c.357+16_357+17dup , LRG_652t1:c.357+16_357+17dup	NP_000445.1:n.357+16_357+17dup
NM_000454.5:c.357+16_357+17dup MANE Select	NP_000445.1:n.357+16_357+17dup