Canonical Allele Identifier: CA2385876628

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659888_31659900delinsTCGTCCCCCCGCG , CM000683.2:g.31659888_31659900delinsTCGTCCCCCCGCG	GRCh38
NC_000021.8:g.33032201_33032213delinsTCGTCCCCCCGCG , CM000683.1:g.33032201_33032213delinsTCGTCCCCCCGCG	GRCh37
NC_000021.7:g.31954072_31954084delinsTCGTCCCCCCGCG	NCBI36
NG_008689.1:g.5267_5279delinsTCGTCCCCCCGCG , LRG_652:g.5267_5279delinsTCGTCCCCCCGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.72+47_72+59delinsTCGTCCCCCCGCG MANE Select	ENSP00000270142.7:n.72+47_72+59delinsTCGTCCCCCCGCG
ENST00000270142.10:c.72+47_72+59delinsTCGTCCCCCCGCG	ENSP00000270142.6:n.72+47_72+59delinsTCGTCCCCCCGCG
ENST00000389995.4:c.15+104_15+116delinsTCGTCCCCCCGCG	ENSP00000374645.4:n.15+104_15+116delinsTCGTCCCCCCGCG
ENST00000470944.1:n.180_192delinsTCGTCCCCCCGCG
ENST00000476106.5:n.149+47_149+59delinsTCGTCCCCCCGCG
NM_000454.4:c.72+47_72+59delinsTCGTCCCCCCGCG , LRG_652t1:c.72+47_72+59delinsTCGTCCCCCCGCG	NP_000445.1:n.72+47_72+59delinsTCGTCCCCCCGCG
NM_000454.5:c.72+47_72+59delinsTCGTCCCCCCGCG MANE Select	NP_000445.1:n.72+47_72+59delinsTCGTCCCCCCGCG