Canonical Allele Identifier: CA748636118

Gene: SOD1

Linked Data

• dbSNP Id: rs1214784427
• MyVariant Identifiers: chr21:g.33039850_33039854del (hg19) ; chr21:g.31667537_31667541del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667541_31667545del , CM000683.2:g.31667541_31667545del	GRCh38
NC_000021.8:g.33039854_33039858del , CM000683.1:g.33039854_33039858del	GRCh37
NC_000021.7:g.31961725_31961729del	NCBI36
NG_008689.1:g.12920_12924del , LRG_652:g.12920_12924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+166_357+170del MANE Select	ENSP00000270142.7:n.357+166_357+170del
ENST00000270142.10:c.357+166_357+170del	ENSP00000270142.6:n.357+166_357+170del
ENST00000389995.4:c.300+166_300+170del	ENSP00000374645.4:n.300+166_300+170del
ENST00000470944.1:n.1285+166_1285+170del
NM_000454.4:c.357+166_357+170del , LRG_652t1:c.357+166_357+170del	NP_000445.1:n.357+166_357+170del
NM_000454.5:c.357+166_357+170del MANE Select	NP_000445.1:n.357+166_357+170del