Canonical Allele Identifier: CA637620949

Gene: SOD1

Linked Data

• dbSNP Id: rs1182140541
• gnomAD v2: 21-33039482-C-CTA
• gnomAD v3: 21-31667169-C-CTA
• gnomAD v4: 21-31667169-C-CTA
• MyVariant Identifiers: chr21:g.33039482_33039483insTA (hg19) ; chr21:g.31667169_31667170insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667170_31667171dup , CM000683.2:g.31667170_31667171dup	GRCh38
NC_000021.8:g.33039483_33039484dup , CM000683.1:g.33039483_33039484dup	GRCh37
NC_000021.7:g.31961354_31961355dup	NCBI36
NG_008689.1:g.12549_12550dup , LRG_652:g.12549_12550dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.240-88_240-87dup MANE Select	ENSP00000270142.7:n.240-88_240-87dup
ENST00000270142.10:c.240-88_240-87dup	ENSP00000270142.6:n.240-88_240-87dup
ENST00000389995.4:c.183-88_183-87dup	ENSP00000374645.4:n.183-88_183-87dup
ENST00000470944.1:n.1168-88_1168-87dup
ENST00000476106.5:n.503-88_503-87dup
NM_000454.4:c.240-88_240-87dup , LRG_652t1:c.240-88_240-87dup	NP_000445.1:n.240-88_240-87dup
NM_000454.5:c.240-88_240-87dup MANE Select	NP_000445.1:n.240-88_240-87dup