Canonical Allele Identifier: CA2654223434

Gene: SOD1

Linked Data

• gnomAD v4: 21-31667252-TATTAGGCATGTTGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667254_31667269del , CM000683.2:g.31667254_31667269del	GRCh38
NC_000021.8:g.33039567_33039582del , CM000683.1:g.33039567_33039582del	GRCh37
NC_000021.7:g.31961438_31961453del	NCBI36
NG_008689.1:g.12633_12648del , LRG_652:g.12633_12648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.240-4_251del
ENST00000270142.10:c.240-4_251del
ENST00000389995.4:c.183-4_194del
ENST00000470944.1:n.1168-4_1179del
ENST00000476106.5:n.503-4_514del
NM_000454.4:c.240-4_251del , LRG_652t1:c.240-4_251del
NM_000454.5:c.240-4_251del