Canonical Allele Identifier: CA2385880607

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667586_31667590delinsAAAGC , CM000683.2:g.31667586_31667590delinsAAAGC	GRCh38
NC_000021.8:g.33039899_33039903delinsAAAGC , CM000683.1:g.33039899_33039903delinsAAAGC	GRCh37
NC_000021.7:g.31961770_31961774delinsAAAGC	NCBI36
NG_008689.1:g.12965_12969delinsAAAGC , LRG_652:g.12965_12969delinsAAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+211_357+215delinsAAAGC MANE Select	ENSP00000270142.7:n.357+211_357+215delinsAAAGC
ENST00000270142.10:c.357+211_357+215delinsAAAGC	ENSP00000270142.6:n.357+211_357+215delinsAAAGC
ENST00000389995.4:c.300+211_300+215delinsAAAGC	ENSP00000374645.4:n.300+211_300+215delinsAAAGC
ENST00000470944.1:n.1285+211_1285+215delinsAAAGC
NM_000454.4:c.357+211_357+215delinsAAAGC , LRG_652t1:c.357+211_357+215delinsAAAGC	NP_000445.1:n.357+211_357+215delinsAAAGC
NM_000454.5:c.357+211_357+215delinsAAAGC MANE Select	NP_000445.1:n.357+211_357+215delinsAAAGC