Canonical Allele Identifier: CA1032992445
Gene: SUCLG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3005619
ClinVar RCV Id: RCV003863706
dbSNP Id: rs1672524253
gnomAD v3: 2-84425593-GA-G
gnomAD v4: 2-84425593-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425595del , CM000664.2:g.84425595del GRCh38
NC_000002.11:g.84652719del , CM000664.1:g.84652719del GRCh37
NC_000002.10:g.84506230del NCBI36
NG_016755.1:g.38869del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.835del MANE Select ENSP00000377446.2:p.Ser279ProfsTer4
ENST00000651342.1:c.*275del ENSP00000498471.1:n.*275del
ENST00000393868.6:c.835del ENSP00000377446.2:p.Ser279ProfsTer4
ENST00000484365.1:n.1343del
ENST00000487809.1:n.582del
ENST00000491123.5:n.681del
NM_003849.3:c.835del NP_003840.2:p.Ser279ProfsTer4
NM_003849.4:c.835del MANE Select NP_003840.2:p.Ser279ProfsTer4
Search 100 bp 5'
Search 100 bp 3'