Canonical Allele Identifier: CA2385880634

Gene: SOD1

Linked Data

• dbSNP Id: rs2049607925

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667644_31667649del , CM000683.2:g.31667644_31667649del	GRCh38
NC_000021.8:g.33039957_33039962del , CM000683.1:g.33039957_33039962del	GRCh37
NC_000021.7:g.31961828_31961833del	NCBI36
NG_008689.1:g.13023_13028del , LRG_652:g.13023_13028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+269_357+274del MANE Select	ENSP00000270142.7:n.357+269_357+274del
ENST00000270142.10:c.357+269_357+274del	ENSP00000270142.6:n.357+269_357+274del
ENST00000389995.4:c.300+269_300+274del	ENSP00000374645.4:n.300+269_300+274del
ENST00000470944.1:n.1285+269_1285+274del
NM_000454.4:c.357+269_357+274del , LRG_652t1:c.357+269_357+274del	NP_000445.1:n.357+269_357+274del
NM_000454.5:c.357+269_357+274del MANE Select	NP_000445.1:n.357+269_357+274del