Canonical Allele Identifier: CA1457431658
Gene: SGCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033288_52033292delinsGTTTT , CM000666.2:g.52033288_52033292delinsGTTTT GRCh38
NC_000004.11:g.52899454_52899458delinsGTTTT , CM000666.1:g.52899454_52899458delinsGTTTT GRCh37
NC_000004.10:g.52594211_52594215delinsGTTTT NCBI36
NG_008891.1:g.10028_10032delinsAAAAC , LRG_204:g.10028_10032delinsAAAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.243+139_243+143delinsAAAAC MANE Select ENSP00000370839.6:n.243+139_243+143delinsAAAAC
ENST00000381431.9:c.243+139_243+143delinsAAAAC ENSP00000370839.5:n.243+139_243+143delinsAAAAC
ENST00000506357.5:c.229+139_229+143delinsAAAAC
ENST00000514133.1:c.210+139_210+143delinsAAAAC ENSP00000425818.1:n.210+139_210+143delinsAAAAC
NM_000232.4:c.243+139_243+143delinsAAAAC , LRG_204t1:c.243+139_243+143delinsAAAAC NP_000223.1:n.243+139_243+143delinsAAAAC
XM_006714049.2:c.-165+139_-165+143delinsAAAAC XP_006714112.1:n.-165+139_-165+143delinsAAAAC
XM_011534403.1:c.34-3429_34-3425delinsAAAAC XP_011532705.1:n.34-3429_34-3425delinsAAAAC
XM_011534404.1:c.-142+139_-142+143delinsAAAAC XP_011532706.1:n.-142+139_-142+143delinsAAAAC
NM_000232.5:c.243+139_243+143delinsAAAAC MANE Select NP_000223.1:n.243+139_243+143delinsAAAAC