Canonical Allele Identifier: CA915940547
Gene: SGCB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033459_52033460del , CM000666.2:g.52033459_52033460del GRCh38
NC_000004.11:g.52899625_52899626del , CM000666.1:g.52899625_52899626del GRCh37
NC_000004.10:g.52594382_52594383del NCBI36
NG_008891.1:g.9860_9861del , LRG_204:g.9860_9861del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.214_215del MANE Select ENSP00000370839.6:p.Leu72ValfsTer26
ENST00000381431.9:c.214_215del ENSP00000370839.5:p.Leu72ValfsTer26
ENST00000506357.5:c.200_201del
ENST00000514133.1:c.181_182del ENSP00000425818.1:p.Leu61ValfsTer26
NM_000232.4:c.214_215del , LRG_204t1:c.214_215del NP_000223.1:p.Leu72ValfsTer26
XM_006714049.2:c.-194_-193del XP_006714112.1:n.-194_-193del
XM_011534403.1:c.34-3597_34-3596del XP_011532705.1:n.34-3597_34-3596del
XM_011534404.1:c.-171_-170del XP_011532706.1:n.-171_-170del
NM_000232.5:c.214_215del MANE Select NP_000223.1:p.Leu72ValfsTer26
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