Canonical Allele Identifier: CA1457431662
Gene: SGCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033297_52033302delinsATAAAG , CM000666.2:g.52033297_52033302delinsATAAAG GRCh38
NC_000004.11:g.52899463_52899468delinsATAAAG , CM000666.1:g.52899463_52899468delinsATAAAG GRCh37
NC_000004.10:g.52594220_52594225delinsATAAAG NCBI36
NG_008891.1:g.10018_10023delinsCTTTAT , LRG_204:g.10018_10023delinsCTTTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.243+129_243+134delinsCTTTAT MANE Select ENSP00000370839.6:n.243+129_243+134delinsCTTTAT
ENST00000381431.9:c.243+129_243+134delinsCTTTAT ENSP00000370839.5:n.243+129_243+134delinsCTTTAT
ENST00000506357.5:c.229+129_229+134delinsCTTTAT
ENST00000514133.1:c.210+129_210+134delinsCTTTAT ENSP00000425818.1:n.210+129_210+134delinsCTTTAT
NM_000232.4:c.243+129_243+134delinsCTTTAT , LRG_204t1:c.243+129_243+134delinsCTTTAT NP_000223.1:n.243+129_243+134delinsCTTTAT
XM_006714049.2:c.-165+129_-165+134delinsCTTTAT XP_006714112.1:n.-165+129_-165+134delinsCTTTAT
XM_011534403.1:c.34-3439_34-3434delinsCTTTAT XP_011532705.1:n.34-3439_34-3434delinsCTTTAT
XM_011534404.1:c.-142+129_-142+134delinsCTTTAT XP_011532706.1:n.-142+129_-142+134delinsCTTTAT
NM_000232.5:c.243+129_243+134delinsCTTTAT MANE Select NP_000223.1:n.243+129_243+134delinsCTTTAT