Canonical Allele Identifier: CA645522825
Gene: SGCB HGNC NCBI

Linked Data

COSMIC: COSM290078

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033553_52033556del , CM000666.2:g.52033553_52033556del GRCh38
NC_000004.11:g.52899719_52899722del , CM000666.1:g.52899719_52899722del GRCh37
NC_000004.10:g.52594476_52594479del NCBI36
NG_008891.1:g.9764_9767del , LRG_204:g.9764_9767del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.118_121del MANE Select ENSP00000370839.6:p.Phe40LysfsTer17
ENST00000381431.9:c.118_121del ENSP00000370839.5:p.Phe40LysfsTer17
ENST00000506357.5:c.104_107del
ENST00000514133.1:c.85_88del ENSP00000425818.1:p.Phe29LysfsTer17
NM_000232.4:c.118_121del , LRG_204t1:c.118_121del NP_000223.1:p.Phe40LysfsTer17
XM_011534403.1:c.34-3693_34-3690del XP_011532705.1:n.34-3693_34-3690del
NM_000232.5:c.118_121del MANE Select NP_000223.1:p.Phe40LysfsTer17