Canonical Allele Identifier: CA2385880429
Gene: SOD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667306_31667307delinsCG , CM000683.2:g.31667306_31667307delinsCG GRCh38
NC_000021.8:g.33039619_33039620delinsCG , CM000683.1:g.33039619_33039620delinsCG GRCh37
NC_000021.7:g.31961490_31961491delinsCG NCBI36
NG_008689.1:g.12685_12686delinsCG , LRG_652:g.12685_12686delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.288_289delinsCG MANE Select ENSP00000270142.7:p.Ala96=
ENST00000270142.10:c.288_289delinsCG ENSP00000270142.6:p.Ala96=
ENST00000389995.4:c.231_232delinsCG ENSP00000374645.4:p.Ala77=
ENST00000470944.1:n.1216_1217delinsCG
ENST00000476106.5:n.551_552delinsCG
NM_000454.4:c.288_289delinsCG , LRG_652t1:c.288_289delinsCG NP_000445.1:p.Ala96=
NM_000454.5:c.288_289delinsCG MANE Select NP_000445.1:p.Ala96=
Search 100 bp 5'
Search 100 bp 3'