Canonical Allele Identifier: CA748636199

Gene: SOD1

Linked Data

• dbSNP Id: rs1363854477
• MyVariant Identifiers: chr21:g.33040003_33040009del (hg19) ; chr21:g.31667690_31667696del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667690_31667696del , CM000683.2:g.31667690_31667696del	GRCh38
NC_000021.8:g.33040003_33040009del , CM000683.1:g.33040003_33040009del	GRCh37
NC_000021.7:g.31961874_31961880del	NCBI36
NG_008689.1:g.13069_13075del , LRG_652:g.13069_13075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+315_357+321del MANE Select	ENSP00000270142.7:n.357+315_357+321del
ENST00000270142.10:c.357+315_357+321del	ENSP00000270142.6:n.357+315_357+321del
ENST00000389995.4:c.300+315_300+321del	ENSP00000374645.4:n.300+315_300+321del
ENST00000470944.1:n.1285+315_1285+321del
NM_000454.4:c.357+315_357+321del , LRG_652t1:c.357+315_357+321del	NP_000445.1:n.357+315_357+321del
NM_000454.5:c.357+315_357+321del MANE Select	NP_000445.1:n.357+315_357+321del