Canonical Allele Identifier: CA637247364

Gene: SOD1

Linked Data

• dbSNP Id: rs1274932823
• gnomAD v2: 21-33039942-CAGA-C
• gnomAD v3: 21-31667629-CAGA-C
• gnomAD v4: 21-31667629-CAGA-C
• MyVariant Identifiers: chr21:g.33039943_33039945del (hg19) ; chr21:g.31667630_31667632del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667632_31667634del , CM000683.2:g.31667632_31667634del	GRCh38
NC_000021.8:g.33039945_33039947del , CM000683.1:g.33039945_33039947del	GRCh37
NC_000021.7:g.31961816_31961818del	NCBI36
NG_008689.1:g.13011_13013del , LRG_652:g.13011_13013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+257_357+259del MANE Select	ENSP00000270142.7:n.357+257_357+259del
ENST00000270142.10:c.357+257_357+259del	ENSP00000270142.6:n.357+257_357+259del
ENST00000389995.4:c.300+257_300+259del	ENSP00000374645.4:n.300+257_300+259del
ENST00000470944.1:n.1285+257_1285+259del
NM_000454.4:c.357+257_357+259del , LRG_652t1:c.357+257_357+259del	NP_000445.1:n.357+257_357+259del
NM_000454.5:c.357+257_357+259del MANE Select	NP_000445.1:n.357+257_357+259del