Canonical Allele Identifier: CA2524524599
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 1443062
ClinVar RCV Id: RCV001953298
dbSNP Id: rs2109380824
gnomAD v4: 4-52038229-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038231del , CM000666.2:g.52038231del GRCh38
NC_000004.11:g.52904397del , CM000666.1:g.52904397del GRCh37
NC_000004.10:g.52599154del NCBI36
NG_008891.1:g.5090del , LRG_204:g.5090del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.30del MANE Select ENSP00000370839.6:p.Glu10AspfsTer9
ENST00000381431.9:c.30del ENSP00000370839.5:p.Glu10AspfsTer9
ENST00000506357.5:c.16del
NM_000232.4:c.30del , LRG_204t1:c.30del NP_000223.1:p.Glu10AspfsTer9
XM_011534403.1:c.30del XP_011532705.1:p.Glu10AspfsTer3
NM_000232.5:c.30del MANE Select NP_000223.1:p.Glu10AspfsTer9
Search 100 bp 5'
Search 100 bp 3'