Canonical Allele Identifier: CA637245821

Gene: SOD1-DT

Linked Data

• dbSNP Id: rs1555836058
• gnomAD v2: 21-33031681-C-CA
• gnomAD v3: 21-31659368-C-CA
• gnomAD v4: 21-31659368-C-CA
• MyVariant Identifiers: chr21:g.33031681_33031682insA (hg19) ; chr21:g.31659368_31659369insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659371dup , CM000683.2:g.31659371dup	GRCh38
NC_000021.8:g.33031684dup , CM000683.1:g.33031684dup	GRCh37
NC_000021.7:g.31953555dup	NCBI36
NG_008689.1:g.4750dup , LRG_652:g.4750dup

Transcript Alleles

HGVS	Amino-acid Change
XR_430363.2:n.124+28dup
XR_937662.1:n.124+28dup
XR_002958653.1:n.88+28dup
XR_430363.3:n.159+28dup