Canonical Allele Identifier: CA2385880624

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667629_31667631delinsCAG , CM000683.2:g.31667629_31667631delinsCAG	GRCh38
NC_000021.8:g.33039942_33039944delinsCAG , CM000683.1:g.33039942_33039944delinsCAG	GRCh37
NC_000021.7:g.31961813_31961815delinsCAG	NCBI36
NG_008689.1:g.13008_13010delinsCAG , LRG_652:g.13008_13010delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+254_357+256delinsCAG MANE Select	ENSP00000270142.7:n.357+254_357+256delinsCAG
ENST00000270142.10:c.357+254_357+256delinsCAG	ENSP00000270142.6:n.357+254_357+256delinsCAG
ENST00000389995.4:c.300+254_300+256delinsCAG	ENSP00000374645.4:n.300+254_300+256delinsCAG
ENST00000470944.1:n.1285+254_1285+256delinsCAG
NM_000454.4:c.357+254_357+256delinsCAG , LRG_652t1:c.357+254_357+256delinsCAG	NP_000445.1:n.357+254_357+256delinsCAG
NM_000454.5:c.357+254_357+256delinsCAG MANE Select	NP_000445.1:n.357+254_357+256delinsCAG