Canonical Allele Identifier: CA637245927

Gene: SOD1

Linked Data

• dbSNP Id: rs1568807202
• gnomAD v2: 21-33032037-C-CCGTTGCAGTCCTCG
• gnomAD v4: 21-31659724-C-CCGTTGCAGTCCTCG
• MyVariant Identifiers: chr21:g.33032037_33032038insCGTTGCAGTCCTCG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659725_31659738dup , CM000683.2:g.31659725_31659738dup	GRCh38
NC_000021.8:g.33032038_33032051dup , CM000683.1:g.33032038_33032051dup	GRCh37
NC_000021.7:g.31953909_31953922dup	NCBI36
NG_008689.1:g.5104_5117dup , LRG_652:g.5104_5117dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000270142.11:c.-45_-32dup MANE Select	ENSP00000270142.7:n.-45_-32dup
ENST00000270142.10:c.-45_-32dup	ENSP00000270142.6:n.-45_-32dup
ENST00000389995.4:c.-45_-32dup	ENSP00000374645.4:n.-45_-32dup
ENST00000470944.1:n.17_30dup
ENST00000476106.5:n.33_46dup
NM_000454.4:c.-45_-32dup , LRG_652t1:c.-45_-32dup	NP_000445.1:n.-45_-32dup
NM_000454.5:c.-45_-32dup MANE Select	NP_000445.1:n.-45_-32dup