Canonical Allele Identifier: CA551340682
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 466603
ClinVar RCV Id: RCV000530736
dbSNP Id: rs775458201
gnomAD v2: 4-52894229-CTT-C
gnomAD v3: 4-52028063-CTT-C
gnomAD v4: 4-52028063-CTT-C
MyVariant Identifiers: chr4:g.52894230_52894231del (hg19) chr4:g.52028064_52028065del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028066_52028067del , CM000666.2:g.52028066_52028067del GRCh38
NC_000004.11:g.52894232_52894233del , CM000666.1:g.52894232_52894233del GRCh37
NC_000004.10:g.52588989_52588990del NCBI36
NG_008891.1:g.15255_15256del , LRG_204:g.15255_15256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.656_657del MANE Select ENSP00000370839.6:p.Lys219SerfsTer2
ENST00000381431.9:c.656_657del ENSP00000370839.5:p.Lys219SerfsTer2
NM_000232.4:c.656_657del , LRG_204t1:c.656_657del NP_000223.1:p.Lys219SerfsTer2
XM_006714049.2:c.359_360del XP_006714112.1:p.Lys120SerfsTer2
XM_011534403.1:c.446_447del XP_011532705.1:p.Lys149SerfsTer2
XM_011534404.1:c.359_360del XP_011532706.1:p.Lys120SerfsTer2
NM_000232.5:c.656_657del MANE Select NP_000223.1:p.Lys219SerfsTer2
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