Canonical Allele Identifier: CA2654223508
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667425_31667426insC , CM000683.2:g.31667425_31667426insC GRCh38
NC_000021.8:g.33039738_33039739insC , CM000683.1:g.33039738_33039739insC GRCh37
NC_000021.7:g.31961609_31961610insC NCBI36
NG_008689.1:g.12804_12805insC , LRG_652:g.12804_12805insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+50_357+51insC MANE Select ENSP00000270142.7:n.357+50_357+51insC
ENST00000270142.10:c.357+50_357+51insC ENSP00000270142.6:n.357+50_357+51insC
ENST00000389995.4:c.300+50_300+51insC ENSP00000374645.4:n.300+50_300+51insC
ENST00000470944.1:n.1285+50_1285+51insC
NM_000454.4:c.357+50_357+51insC , LRG_652t1:c.357+50_357+51insC NP_000445.1:n.357+50_357+51insC
NM_000454.5:c.357+50_357+51insC MANE Select NP_000445.1:n.357+50_357+51insC