Canonical Allele Identifier: CA2385880655

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667696_31667698delinsCAG , CM000683.2:g.31667696_31667698delinsCAG	GRCh38
NC_000021.8:g.33040009_33040011delinsCAG , CM000683.1:g.33040009_33040011delinsCAG	GRCh37
NC_000021.7:g.31961880_31961882delinsCAG	NCBI36
NG_008689.1:g.13075_13077delinsCAG , LRG_652:g.13075_13077delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+321_357+323delinsCAG MANE Select	ENSP00000270142.7:n.357+321_357+323delinsCAG
ENST00000270142.10:c.357+321_357+323delinsCAG	ENSP00000270142.6:n.357+321_357+323delinsCAG
ENST00000389995.4:c.300+321_300+323delinsCAG	ENSP00000374645.4:n.300+321_300+323delinsCAG
ENST00000470944.1:n.1285+321_1285+323delinsCAG
NM_000454.4:c.357+321_357+323delinsCAG , LRG_652t1:c.357+321_357+323delinsCAG	NP_000445.1:n.357+321_357+323delinsCAG
NM_000454.5:c.357+321_357+323delinsCAG MANE Select	NP_000445.1:n.357+321_357+323delinsCAG