Canonical Allele Identifier: CA1021813821

Gene: SOD1

Linked Data

• dbSNP Id: rs2049600541
• gnomAD v3: 21-31667129-TGTA-T
• gnomAD v4: 21-31667129-TGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667130_31667132del , CM000683.2:g.31667130_31667132del	GRCh38
NC_000021.8:g.33039443_33039445del , CM000683.1:g.33039443_33039445del	GRCh37
NC_000021.7:g.31961314_31961316del	NCBI36
NG_008689.1:g.12509_12511del , LRG_652:g.12509_12511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.240-128_240-126del MANE Select	ENSP00000270142.7:n.240-128_240-126del
ENST00000270142.10:c.240-128_240-126del	ENSP00000270142.6:n.240-128_240-126del
ENST00000389995.4:c.183-128_183-126del	ENSP00000374645.4:n.183-128_183-126del
ENST00000470944.1:n.1168-128_1168-126del
ENST00000476106.5:n.503-128_503-126del
NM_000454.4:c.240-128_240-126del , LRG_652t1:c.240-128_240-126del	NP_000445.1:n.240-128_240-126del
NM_000454.5:c.240-128_240-126del MANE Select	NP_000445.1:n.240-128_240-126del