Canonical Allele Identifier: CA917616483
Gene: SGCD HGNC NCBI

Linked Data

ClinVar Variation Id: 2713565
ClinVar RCV Id: RCV003510831
dbSNP Id: rs1561743757
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508656_156508657del , CM000667.2:g.156508656_156508657del GRCh38
NC_000005.9:g.155935666_155935667del , CM000667.1:g.155935666_155935667del GRCh37
NC_000005.8:g.155868244_155868245del NCBI36
NG_008693.2:g.643313_643314del , LRG_205:g.643313_643314del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.248_249del MANE Select ENSP00000338343.4:p.Ser83Ter
ENST00000337851.8:c.248_249del ENSP00000338343.4:p.Ser83Ter
ENST00000435422.7:c.245_246del ENSP00000403003.2:p.Ser82Ter
ENST00000517913.5:c.248_249del ENSP00000429378.1:p.Ser83Ter
ENST00000524347.2:c.*112_*113del ENSP00000430794.1:n.*112_*113del
NM_000337.5:c.248_249del , LRG_205t1:c.248_249del NP_000328.2:p.Ser83Ter
NM_001128209.1:c.245_246del NP_001121681.1:p.Ser82Ter
NM_172244.2:c.248_249del NP_758447.1:p.Ser83Ter
XM_005265966.3:c.248_249del XP_005266023.1:p.Ser83Ter
XM_005265967.1:c.248_249del XP_005266024.1:p.Ser83Ter
XM_006714911.2:c.248_249del XP_006714974.1:p.Ser83Ter
XM_011534621.1:c.245_246del XP_011532923.1:p.Ser82Ter
XM_005265966.5:c.248_249del XP_005266023.1:p.Ser83Ter
XM_005265967.2:c.248_249del XP_005266024.1:p.Ser83Ter
XM_011534621.2:c.245_246del XP_011532923.1:p.Ser82Ter
XM_017009723.2:c.248_249del XP_016865212.1:p.Ser83Ter
XM_017009724.1:c.248_249del XP_016865213.1:p.Ser83Ter
NM_001128209.2:c.245_246del NP_001121681.1:p.Ser82Ter
NM_172244.3:c.248_249del NP_758447.1:p.Ser83Ter
NM_000337.6:c.248_249del MANE Select NP_000328.2:p.Ser83Ter
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