Canonical Allele Identifier: CA2654223390

Gene: SOD1

Linked Data

• gnomAD v4: 21-31667163-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667167_31667168del , CM000683.2:g.31667167_31667168del	GRCh38
NC_000021.8:g.33039480_33039481del , CM000683.1:g.33039480_33039481del	GRCh37
NC_000021.7:g.31961351_31961352del	NCBI36
NG_008689.1:g.12546_12547del , LRG_652:g.12546_12547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.240-91_240-90del MANE Select	ENSP00000270142.7:n.240-91_240-90del
ENST00000270142.10:c.240-91_240-90del	ENSP00000270142.6:n.240-91_240-90del
ENST00000389995.4:c.183-91_183-90del	ENSP00000374645.4:n.183-91_183-90del
ENST00000470944.1:n.1168-91_1168-90del
ENST00000476106.5:n.503-91_503-90del
NM_000454.4:c.240-91_240-90del , LRG_652t1:c.240-91_240-90del	NP_000445.1:n.240-91_240-90del
NM_000454.5:c.240-91_240-90del MANE Select	NP_000445.1:n.240-91_240-90del