Canonical Allele Identifier: CA9998902
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1170537
ClinVar RCV Id: RCV001522983 RCV001673105 RCV003931140
dbSNP Id: rs541000032
ExAC: 21:33036248 ATAAACAG / A
gnomAD v2: 21-33036248-ATAAACAG-A
gnomAD v3: 21-31663935-ATAAACAG-A
gnomAD v4: 21-31663935-ATAAACAG-A
MyVariant Identifiers: chr21:g.33036249_33036255del (hg19) chr21:g.31663937_31663943del (hg38) chr21:g.31663936_31663942del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663938_31663944del , CM000683.2:g.31663938_31663944del GRCh38
NC_000021.8:g.33036251_33036257del , CM000683.1:g.33036251_33036257del GRCh37
NC_000021.7:g.31958122_31958128del NCBI36
NG_008689.1:g.9317_9323del , LRG_652:g.9317_9323del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.169+52_169+58del MANE Select ENSP00000270142.7:n.169+52_169+58del
ENST00000270142.10:c.169+52_169+58del ENSP00000270142.6:n.169+52_169+58del
ENST00000389995.4:c.112+52_112+58del ENSP00000374645.4:n.112+52_112+58del
ENST00000470944.1:n.1097+52_1097+58del
ENST00000476106.5:n.432+52_432+58del
NM_000454.4:c.169+52_169+58del , LRG_652t1:c.169+52_169+58del NP_000445.1:n.169+52_169+58del
NM_000454.5:c.169+52_169+58del MANE Select NP_000445.1:n.169+52_169+58del
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