Canonical Allele Identifier: CA2385878890

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31664048_31664060delinsCTGACCTTAGCCT , CM000683.2:g.31664048_31664060delinsCTGACCTTAGCCT	GRCh38
NC_000021.8:g.33036361_33036373delinsCTGACCTTAGCCT , CM000683.1:g.33036361_33036373delinsCTGACCTTAGCCT	GRCh37
NC_000021.7:g.31958232_31958244delinsCTGACCTTAGCCT	NCBI36
NG_008689.1:g.9427_9439delinsCTGACCTTAGCCT , LRG_652:g.9427_9439delinsCTGACCTTAGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.169+162_169+174delinsCTGACCTTAGCCT MANE Select	ENSP00000270142.7:n.169+162_169+174delinsCTGACCTTAGCCT
ENST00000270142.10:c.169+162_169+174delinsCTGACCTTAGCCT	ENSP00000270142.6:n.169+162_169+174delinsCTGACCTTAGCCT
ENST00000389995.4:c.112+162_112+174delinsCTGACCTTAGCCT	ENSP00000374645.4:n.112+162_112+174delinsCTGACCTTAGCCT
ENST00000470944.1:n.1097+162_1097+174delinsCTGACCTTAGCCT
ENST00000476106.5:n.432+162_432+174delinsCTGACCTTAGCCT
NM_000454.4:c.169+162_169+174delinsCTGACCTTAGCCT , LRG_652t1:c.169+162_169+174delinsCTGACCTTAGCCT	NP_000445.1:n.169+162_169+174delinsCTGACCTTAGCCT
NM_000454.5:c.169+162_169+174delinsCTGACCTTAGCCT MANE Select	NP_000445.1:n.169+162_169+174delinsCTGACCTTAGCCT