Canonical Allele Identifier: CA2385876818

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31660180_31660183delinsCGTG , CM000683.2:g.31660180_31660183delinsCGTG	GRCh38
NC_000021.8:g.33032493_33032496delinsCGTG , CM000683.1:g.33032493_33032496delinsCGTG	GRCh37
NC_000021.7:g.31954364_31954367delinsCGTG	NCBI36
NG_008689.1:g.5559_5562delinsCGTG , LRG_652:g.5559_5562delinsCGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.72+339_72+342delinsCGTG MANE Select	ENSP00000270142.7:n.72+339_72+342delinsCGTG
ENST00000270142.10:c.72+339_72+342delinsCGTG	ENSP00000270142.6:n.72+339_72+342delinsCGTG
ENST00000389995.4:c.15+396_15+399delinsCGTG	ENSP00000374645.4:n.15+396_15+399delinsCGTG
ENST00000470944.1:n.472_475delinsCGTG
ENST00000476106.5:n.149+339_149+342delinsCGTG
NM_000454.4:c.72+339_72+342delinsCGTG , LRG_652t1:c.72+339_72+342delinsCGTG	NP_000445.1:n.72+339_72+342delinsCGTG
NM_000454.5:c.72+339_72+342delinsCGTG MANE Select	NP_000445.1:n.72+339_72+342delinsCGTG