Canonical Allele Identifier: CA913106930
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028070_52028071del , CM000666.2:g.52028070_52028071del GRCh38
NC_000004.11:g.52894236_52894237del , CM000666.1:g.52894236_52894237del GRCh37
NC_000004.10:g.52588993_52588994del NCBI36
NG_008891.1:g.15252_15253del , LRG_204:g.15252_15253del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.653_654del MANE Select ENSP00000370839.6:p.Ile218LysfsTer3
ENST00000381431.9:c.653_654del ENSP00000370839.5:p.Ile218LysfsTer3
NM_000232.4:c.653_654del , LRG_204t1:c.653_654del NP_000223.1:p.Ile218LysfsTer3
XM_006714049.2:c.356_357del XP_006714112.1:p.Ile119LysfsTer3
XM_011534403.1:c.443_444del XP_011532705.1:p.Ile148LysfsTer3
XM_011534404.1:c.356_357del XP_011532706.1:p.Ile119LysfsTer3
NM_000232.5:c.653_654del MANE Select NP_000223.1:p.Ile218LysfsTer3