Canonical Allele Identifier: CA1021796965
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs2049534463
gnomAD v3: 21-31660049-GTGGGACCGAGGCCGCCGCGGGGC-G
gnomAD v4: 21-31660049-GTGGGACCGAGGCCGCCGCGGGGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660054_31660076del , CM000683.2:g.31660054_31660076del GRCh38
NC_000021.8:g.33032367_33032389del , CM000683.1:g.33032367_33032389del GRCh37
NC_000021.7:g.31954238_31954260del NCBI36
NG_008689.1:g.5433_5455del , LRG_652:g.5433_5455del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+213_72+235del MANE Select ENSP00000270142.7:n.72+213_72+235del
ENST00000270142.10:c.72+213_72+235del ENSP00000270142.6:n.72+213_72+235del
ENST00000389995.4:c.15+270_15+292del ENSP00000374645.4:n.15+270_15+292del
ENST00000470944.1:n.346_368del
ENST00000476106.5:n.149+213_149+235del
NM_000454.4:c.72+213_72+235del , LRG_652t1:c.72+213_72+235del NP_000445.1:n.72+213_72+235del
NM_000454.5:c.72+213_72+235del MANE Select NP_000445.1:n.72+213_72+235del
Search 100 bp 5'
Search 100 bp 3'