Canonical Allele Identifier: CA2737609752
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs2123432044

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663950del , CM000683.2:g.31663950del GRCh38
NC_000021.8:g.33036263del , CM000683.1:g.33036263del GRCh37
NC_000021.7:g.31958134del NCBI36
NG_008689.1:g.9329del , LRG_652:g.9329del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.169+64del MANE Select ENSP00000270142.7:n.169+64del
ENST00000270142.10:c.169+64del ENSP00000270142.6:n.169+64del
ENST00000389995.4:c.112+64del ENSP00000374645.4:n.112+64del
ENST00000470944.1:n.1097+64del
ENST00000476106.5:n.432+64del
NM_000454.4:c.169+64del , LRG_652t1:c.169+64del NP_000445.1:n.169+64del
NM_000454.5:c.169+64del MANE Select NP_000445.1:n.169+64del