Canonical Allele Identifier: CA2385880434
Gene: SOD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667314_31667318delinsCTATT , CM000683.2:g.31667314_31667318delinsCTATT GRCh38
NC_000021.8:g.33039627_33039631delinsCTATT , CM000683.1:g.33039627_33039631delinsCTATT GRCh37
NC_000021.7:g.31961498_31961502delinsCTATT NCBI36
NG_008689.1:g.12693_12697delinsCTATT , LRG_652:g.12693_12697delinsCTATT

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.296_300delinsCTATT MANE Select ENSP00000270142.7:p.Ser99=
ENST00000270142.10:c.296_300delinsCTATT ENSP00000270142.6:p.Ser99=
ENST00000389995.4:c.239_243delinsCTATT ENSP00000374645.4:p.Ser80=
ENST00000470944.1:n.1224_1228delinsCTATT
ENST00000476106.5:n.559_563delinsCTATT
NM_000454.4:c.296_300delinsCTATT , LRG_652t1:c.296_300delinsCTATT NP_000445.1:p.Ser99=
NM_000454.5:c.296_300delinsCTATT MANE Select NP_000445.1:p.Ser99=
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