Canonical Allele Identifier: CA2385878891

Gene: SOD1

Linked Data

• dbSNP Id: rs2049572180

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31664055_31664066del , CM000683.2:g.31664055_31664066del	GRCh38
NC_000021.8:g.33036368_33036379del , CM000683.1:g.33036368_33036379del	GRCh37
NC_000021.7:g.31958239_31958250del	NCBI36
NG_008689.1:g.9434_9445del , LRG_652:g.9434_9445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.169+169_169+180del MANE Select	ENSP00000270142.7:n.169+169_169+180del
ENST00000270142.10:c.169+169_169+180del	ENSP00000270142.6:n.169+169_169+180del
ENST00000389995.4:c.112+169_112+180del	ENSP00000374645.4:n.112+169_112+180del
ENST00000470944.1:n.1097+169_1097+180del
ENST00000476106.5:n.432+169_432+180del
NM_000454.4:c.169+169_169+180del , LRG_652t1:c.169+169_169+180del	NP_000445.1:n.169+169_169+180del
NM_000454.5:c.169+169_169+180del MANE Select	NP_000445.1:n.169+169_169+180del