Canonical Allele Identifier: CA2654223184
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663837_31663838insA , CM000683.2:g.31663837_31663838insA GRCh38
NC_000021.8:g.33036150_33036151insA , CM000683.1:g.33036150_33036151insA GRCh37
NC_000021.7:g.31958021_31958022insA NCBI36
NG_008689.1:g.9216_9217insA , LRG_652:g.9216_9217insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.120_121insA MANE Select ENSP00000270142.7:p.Glu41ArgfsTer10
ENST00000270142.10:c.120_121insA ENSP00000270142.6:p.Glu41ArgfsTer10
ENST00000389995.4:c.63_64insA ENSP00000374645.4:p.Glu22ArgfsTer10
ENST00000470944.1:n.1048_1049insA
ENST00000476106.5:n.383_384insA
NM_000454.4:c.120_121insA , LRG_652t1:c.120_121insA NP_000445.1:p.Glu41ArgfsTer10
NM_000454.5:c.120_121insA MANE Select NP_000445.1:p.Glu41ArgfsTer10