Canonical Allele Identifier: CA748618258

Gene: SOD1

Linked Data

• dbSNP Id: rs1379647518
• MyVariant Identifiers: chr21:g.33031961_33031964del (hg19) ; chr21:g.31659648_31659651del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659649_31659652del , CM000683.2:g.31659649_31659652del	GRCh38
NC_000021.8:g.33031962_33031965del , CM000683.1:g.33031962_33031965del	GRCh37
NC_000021.7:g.31953833_31953836del	NCBI36
NG_008689.1:g.5028_5031del , LRG_652:g.5028_5031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.10:c.-121_-118del	ENSP00000270142.6:n.-121_-118del
NM_000454.4:c.-121_-118del , LRG_652t1:c.-121_-118del	NP_000445.1:n.-121_-118del