Canonical Allele Identifier: CA2573157383

Gene: SOD1

Linked Data

• ClinVar Variation Id: 1409985
• ClinVar RCV Id: RCV001916197
• dbSNP Id: rs2123435528
• gnomAD v4: 21-31667331-ATCTCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667337_31667342del , CM000683.2:g.31667337_31667342del	GRCh38
NC_000021.8:g.33039650_33039655del , CM000683.1:g.33039650_33039655del	GRCh37
NC_000021.7:g.31961521_31961526del	NCBI36
NG_008689.1:g.12716_12721del , LRG_652:g.12716_12721del

Transcript Alleles

HGVS	Amino-acid change
ENST00000270142.11:c.319_324del MANE Select	ENSP00000270142.7:p.Leu107_Ser108del
ENST00000270142.10:c.319_324del	ENSP00000270142.6:p.Leu107_Ser108del
ENST00000389995.4:c.262_267del	ENSP00000374645.4:p.Leu88_Ser89del
ENST00000470944.1:n.1247_1252del
NM_000454.4:c.319_324del , LRG_652t1:c.319_324del	NP_000445.1:p.Leu107_Ser108del
NM_000454.5:c.319_324del MANE Select	NP_000445.1:p.Leu107_Ser108del