Canonical Allele Identifier: CA2385880623

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667629_31667632delinsCAGA , CM000683.2:g.31667629_31667632delinsCAGA	GRCh38
NC_000021.8:g.33039942_33039945delinsCAGA , CM000683.1:g.33039942_33039945delinsCAGA	GRCh37
NC_000021.7:g.31961813_31961816delinsCAGA	NCBI36
NG_008689.1:g.13008_13011delinsCAGA , LRG_652:g.13008_13011delinsCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+254_357+257delinsCAGA MANE Select	ENSP00000270142.7:n.357+254_357+257delinsCAGA
ENST00000270142.10:c.357+254_357+257delinsCAGA	ENSP00000270142.6:n.357+254_357+257delinsCAGA
ENST00000389995.4:c.300+254_300+257delinsCAGA	ENSP00000374645.4:n.300+254_300+257delinsCAGA
ENST00000470944.1:n.1285+254_1285+257delinsCAGA
NM_000454.4:c.357+254_357+257delinsCAGA , LRG_652t1:c.357+254_357+257delinsCAGA	NP_000445.1:n.357+254_357+257delinsCAGA
NM_000454.5:c.357+254_357+257delinsCAGA MANE Select	NP_000445.1:n.357+254_357+257delinsCAGA