Canonical Allele Identifier: CA2385880600

Gene: SOD1

Linked Data

• dbSNP Id: rs2049607041

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667568del , CM000683.2:g.31667568del	GRCh38
NC_000021.8:g.33039881del , CM000683.1:g.33039881del	GRCh37
NC_000021.7:g.31961752del	NCBI36
NG_008689.1:g.12947del , LRG_652:g.12947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+193del MANE Select	ENSP00000270142.7:n.357+193del
ENST00000270142.10:c.357+193del	ENSP00000270142.6:n.357+193del
ENST00000389995.4:c.300+193del	ENSP00000374645.4:n.300+193del
ENST00000470944.1:n.1285+193del
NM_000454.4:c.357+193del , LRG_652t1:c.357+193del	NP_000445.1:n.357+193del
NM_000454.5:c.357+193del MANE Select	NP_000445.1:n.357+193del