Canonical Allele Identifier: CA319334735
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs534860517
gnomAD v2: 21-33039752-TTTGA-T
gnomAD v3: 21-31667439-TTTGA-T
gnomAD v4: 21-31667439-TTTGA-T
MyVariant Identifiers: chr21:g.33039753_33039756del (hg19) chr21:g.31667440_31667443del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667443_31667446del , CM000683.2:g.31667443_31667446del GRCh38
NC_000021.8:g.33039756_33039759del , CM000683.1:g.33039756_33039759del GRCh37
NC_000021.7:g.31961627_31961630del NCBI36
NG_008689.1:g.12822_12825del , LRG_652:g.12822_12825del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+68_357+71del MANE Select ENSP00000270142.7:n.357+68_357+71del
ENST00000270142.10:c.357+68_357+71del ENSP00000270142.6:n.357+68_357+71del
ENST00000389995.4:c.300+68_300+71del ENSP00000374645.4:n.300+68_300+71del
ENST00000470944.1:n.1285+68_1285+71del
NM_000454.4:c.357+68_357+71del , LRG_652t1:c.357+68_357+71del NP_000445.1:n.357+68_357+71del
NM_000454.5:c.357+68_357+71del MANE Select NP_000445.1:n.357+68_357+71del
Search 100 bp 5'
Search 100 bp 3'