Canonical Allele Identifier: CA2573052333
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 1180815
ClinVar RCV Id: RCV001814544
dbSNP Id: rs2109375847
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033491del , CM000666.2:g.52033491del GRCh38
NC_000004.11:g.52899657del , CM000666.1:g.52899657del GRCh37
NC_000004.10:g.52594414del NCBI36
NG_008891.1:g.9831del , LRG_204:g.9831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.185del MANE Select ENSP00000370839.6:p.Gly62AlafsTer3
ENST00000381431.9:c.185del ENSP00000370839.5:p.Gly62AlafsTer3
ENST00000506357.5:c.171del
ENST00000514133.1:c.152del ENSP00000425818.1:p.Gly51AlafsTer3
NM_000232.4:c.185del , LRG_204t1:c.185del NP_000223.1:p.Gly62AlafsTer3
XM_006714049.2:c.-223del XP_006714112.1:n.-223del
XM_011534403.1:c.34-3626del XP_011532705.1:n.34-3626del
XM_011534404.1:c.-200del XP_011532706.1:n.-200del
NM_000232.5:c.185del MANE Select NP_000223.1:p.Gly62AlafsTer3
Search 100 bp 5'
Search 100 bp 3'