Canonical Allele Identifier: CA9998942

Gene: SOD1

Linked Data

• ClinVar Variation Id: 2913075
• ClinVar RCV Id: RCV003629904
• dbSNP Id: rs770449123
• ExAC: 21:33039559 TTTCA / T
• gnomAD v2: 21-33039559-TTTCA-T
• gnomAD v3: 21-31667246-TTTCA-T
• gnomAD v4: 21-31667246-TTTCA-T
• MyVariant Identifiers: chr21:g.33039560_33039563del (hg19) ; chr21:g.31667248_31667251del (hg38) ; chr21:g.31667247_31667250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667249_31667252del , CM000683.2:g.31667249_31667252del	GRCh38
NC_000021.8:g.33039562_33039565del , CM000683.1:g.33039562_33039565del	GRCh37
NC_000021.7:g.31961433_31961436del	NCBI36
NG_008689.1:g.12628_12631del , LRG_652:g.12628_12631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.240-9_240-6del MANE Select	ENSP00000270142.7:n.240-9_240-6del
ENST00000270142.10:c.240-9_240-6del	ENSP00000270142.6:n.240-9_240-6del
ENST00000389995.4:c.183-9_183-6del	ENSP00000374645.4:n.183-9_183-6del
ENST00000470944.1:n.1168-9_1168-6del
ENST00000476106.5:n.503-9_503-6del
NM_000454.4:c.240-9_240-6del , LRG_652t1:c.240-9_240-6del	NP_000445.1:n.240-9_240-6del
NM_000454.5:c.240-9_240-6del MANE Select	NP_000445.1:n.240-9_240-6del