Canonical Allele Identifier: CA2739265888
Community Standard Title: NM_000232.5(SGCB):c.558_568del (p.His187PhefsTer16)
Gene: SGCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028784_52028794del , CM000666.2:g.52028784_52028794del GRCh38
NC_000004.11:g.52894950_52894960del , CM000666.1:g.52894950_52894960del GRCh37
NC_000004.10:g.52589707_52589717del NCBI36
NG_008891.1:g.14527_14537del , LRG_204:g.14527_14537del

Transcript Alleles

HGVS Amino-acid Change
NM_000232.5:c.558_568del MANE Select NP_000223.1:p.His187PhefsTer16
ENST00000381431.10:c.558_568del MANE Select ENSP00000370839.6:p.His187PhefsTer16
NM_000232.4:c.558_568del , LRG_204t1:c.558_568del NP_000223.1:p.His187PhefsTer16
ENST00000381431.9:c.558_568del ENSP00000370839.5:p.His187PhefsTer16
ENST00000506357.5:c.641_651del
XM_006714049.2:c.261_271del XP_006714112.1:p.His88PhefsTer16
XM_011534403.1:c.348_358del XP_011532705.1:p.His117PhefsTer16
XM_011534404.1:c.261_271del XP_011532706.1:p.His88PhefsTer16