Canonical Allele Identifier: CA748636203

Gene: SOD1

Linked Data

• dbSNP Id: rs1406503954
• gnomAD v3: 21-31667696-CAG-C
• gnomAD v4: 21-31667696-CAG-C
• MyVariant Identifiers: chr21:g.33040010_33040011del (hg19) ; chr21:g.31667697_31667698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667698_31667699del , CM000683.2:g.31667698_31667699del	GRCh38
NC_000021.8:g.33040011_33040012del , CM000683.1:g.33040011_33040012del	GRCh37
NC_000021.7:g.31961882_31961883del	NCBI36
NG_008689.1:g.13077_13078del , LRG_652:g.13077_13078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+323_357+324del MANE Select	ENSP00000270142.7:n.357+323_357+324del
ENST00000270142.10:c.357+323_357+324del	ENSP00000270142.6:n.357+323_357+324del
ENST00000389995.4:c.300+323_300+324del	ENSP00000374645.4:n.300+323_300+324del
ENST00000470944.1:n.1285+323_1285+324del
NM_000454.4:c.357+323_357+324del , LRG_652t1:c.357+323_357+324del	NP_000445.1:n.357+323_357+324del
NM_000454.5:c.357+323_357+324del MANE Select	NP_000445.1:n.357+323_357+324del