Canonical Allele Identifier: CA2654223219

Gene: SOD1

Linked Data

• gnomAD v4: 21-31663940-CAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663943_31663945del , CM000683.2:g.31663943_31663945del	GRCh38
NC_000021.8:g.33036256_33036258del , CM000683.1:g.33036256_33036258del	GRCh37
NC_000021.7:g.31958127_31958129del	NCBI36
NG_008689.1:g.9322_9324del , LRG_652:g.9322_9324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.169+57_169+59del MANE Select	ENSP00000270142.7:n.169+57_169+59del
ENST00000270142.10:c.169+57_169+59del	ENSP00000270142.6:n.169+57_169+59del
ENST00000389995.4:c.112+57_112+59del	ENSP00000374645.4:n.112+57_112+59del
ENST00000470944.1:n.1097+57_1097+59del
ENST00000476106.5:n.432+57_432+59del
NM_000454.4:c.169+57_169+59del , LRG_652t1:c.169+57_169+59del	NP_000445.1:n.169+57_169+59del
NM_000454.5:c.169+57_169+59del MANE Select	NP_000445.1:n.169+57_169+59del