Canonical Allele Identifier: CA2654223189

Gene: SOD1

Linked Data

• gnomAD v4: 21-31663894-T-TTGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663902_31663906dup , CM000683.2:g.31663902_31663906dup	GRCh38
NC_000021.8:g.33036215_33036219dup , CM000683.1:g.33036215_33036219dup	GRCh37
NC_000021.7:g.31958086_31958090dup	NCBI36
NG_008689.1:g.9281_9285dup , LRG_652:g.9281_9285dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.169+16_169+20dup MANE Select	ENSP00000270142.7:n.169+16_169+20dup
ENST00000270142.10:c.169+16_169+20dup	ENSP00000270142.6:n.169+16_169+20dup
ENST00000389995.4:c.112+16_112+20dup	ENSP00000374645.4:n.112+16_112+20dup
ENST00000470944.1:n.1097+16_1097+20dup
ENST00000476106.5:n.432+16_432+20dup
NM_000454.4:c.169+16_169+20dup , LRG_652t1:c.169+16_169+20dup	NP_000445.1:n.169+16_169+20dup
NM_000454.5:c.169+16_169+20dup MANE Select	NP_000445.1:n.169+16_169+20dup