Canonical Allele Identifier: CA637246809

Gene: SOD1

Linked Data

• dbSNP Id: rs1568809085
• gnomAD v2: 21-33036073-ACTCT-A
• gnomAD v4: 21-31663760-ACTCT-A
• MyVariant Identifiers: chr21:g.33036074_33036077del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663764_31663767del , CM000683.2:g.31663764_31663767del	GRCh38
NC_000021.8:g.33036077_33036080del , CM000683.1:g.33036077_33036080del	GRCh37
NC_000021.7:g.31957948_31957951del	NCBI36
NG_008689.1:g.9143_9146del , LRG_652:g.9143_9146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.73-26_73-23del MANE Select	ENSP00000270142.7:n.73-26_73-23del
ENST00000270142.10:c.73-26_73-23del	ENSP00000270142.6:n.73-26_73-23del
ENST00000389995.4:c.16-26_16-23del	ENSP00000374645.4:n.16-26_16-23del
ENST00000470944.1:n.1001-26_1001-23del
ENST00000476106.5:n.336-26_336-23del
NM_000454.4:c.73-26_73-23del , LRG_652t1:c.73-26_73-23del	NP_000445.1:n.73-26_73-23del
NM_000454.5:c.73-26_73-23del MANE Select	NP_000445.1:n.73-26_73-23del