Canonical Allele Identifier: CA748621168

Gene: SOD1

Linked Data

• dbSNP Id: rs1392932783
• gnomAD v3: 21-31663724-GGGTAAA-G
• gnomAD v4: 21-31663724-GGGTAAA-G
• MyVariant Identifiers: chr21:g.33036038_33036043del (hg19) ; chr21:g.31663725_31663730del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663731_31663736del , CM000683.2:g.31663731_31663736del	GRCh38
NC_000021.8:g.33036044_33036049del , CM000683.1:g.33036044_33036049del	GRCh37
NC_000021.7:g.31957915_31957920del	NCBI36
NG_008689.1:g.9110_9115del , LRG_652:g.9110_9115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.73-59_73-54del MANE Select	ENSP00000270142.7:n.73-59_73-54del
ENST00000270142.10:c.73-59_73-54del	ENSP00000270142.6:n.73-59_73-54del
ENST00000389995.4:c.16-59_16-54del	ENSP00000374645.4:n.16-59_16-54del
ENST00000470944.1:n.1001-59_1001-54del
ENST00000476106.5:n.336-59_336-54del
NM_000454.4:c.73-59_73-54del , LRG_652t1:c.73-59_73-54del	NP_000445.1:n.73-59_73-54del
NM_000454.5:c.73-59_73-54del MANE Select	NP_000445.1:n.73-59_73-54del