Canonical Allele Identifier: CA2385880531

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667439_31667443delinsTTTGA , CM000683.2:g.31667439_31667443delinsTTTGA	GRCh38
NC_000021.8:g.33039752_33039756delinsTTTGA , CM000683.1:g.33039752_33039756delinsTTTGA	GRCh37
NC_000021.7:g.31961623_31961627delinsTTTGA	NCBI36
NG_008689.1:g.12818_12822delinsTTTGA , LRG_652:g.12818_12822delinsTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+64_357+68delinsTTTGA MANE Select	ENSP00000270142.7:n.357+64_357+68delinsTTTGA
ENST00000270142.10:c.357+64_357+68delinsTTTGA	ENSP00000270142.6:n.357+64_357+68delinsTTTGA
ENST00000389995.4:c.300+64_300+68delinsTTTGA	ENSP00000374645.4:n.300+64_300+68delinsTTTGA
ENST00000470944.1:n.1285+64_1285+68delinsTTTGA
NM_000454.4:c.357+64_357+68delinsTTTGA , LRG_652t1:c.357+64_357+68delinsTTTGA	NP_000445.1:n.357+64_357+68delinsTTTGA
NM_000454.5:c.357+64_357+68delinsTTTGA MANE Select	NP_000445.1:n.357+64_357+68delinsTTTGA