Canonical Allele Identifier: CA2385876841
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs2049536469
gnomAD v3: 21-31660208-CCTTG-C
gnomAD v4: 21-31660208-CCTTG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660213_31660216del , CM000683.2:g.31660213_31660216del GRCh38
NC_000021.8:g.33032526_33032529del , CM000683.1:g.33032526_33032529del GRCh37
NC_000021.7:g.31954397_31954400del NCBI36
NG_008689.1:g.5592_5595del , LRG_652:g.5592_5595del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+372_72+375del MANE Select ENSP00000270142.7:n.72+372_72+375del
ENST00000270142.10:c.72+372_72+375del ENSP00000270142.6:n.72+372_72+375del
ENST00000389995.4:c.15+429_15+432del ENSP00000374645.4:n.15+429_15+432del
ENST00000470944.1:n.505_508del
ENST00000476106.5:n.149+372_149+375del
NM_000454.4:c.72+372_72+375del , LRG_652t1:c.72+372_72+375del NP_000445.1:n.72+372_72+375del
NM_000454.5:c.72+372_72+375del MANE Select NP_000445.1:n.72+372_72+375del
Search 100 bp 5'
Search 100 bp 3'