Canonical Allele Identifier: CA1445033333

Gene: SOD3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24800250_24800251delinsGC , CM000666.2:g.24800250_24800251delinsGC	GRCh38
NC_000004.11:g.24801872_24801873delinsGC , CM000666.1:g.24801872_24801873delinsGC	GRCh37
NC_000004.10:g.24410970_24410971delinsGC	NCBI36
NG_012213.1:g.9788_9789delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.*6_*7delinsGC MANE Select	ENSP00000371554.3:n.*6_*7delinsGC
ENST00000382120.3:c.*6_*7delinsGC	ENSP00000371554.3:n.*6_*7delinsGC
NM_003102.2:c.*6_*7delinsGC	NP_003093.2:n.*6_*7delinsGC
XR_427488.1:n.919_920delinsGC
NM_003102.3:c.*6_*7delinsGC	NP_003093.2:n.*6_*7delinsGC
NM_003102.4:c.*6_*7delinsGC MANE Select	NP_003093.2:n.*6_*7delinsGC