Canonical Allele Identifier: CA16040953
Gene: SGCB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370474
ClinVar RCV Id: RCV000410503
dbSNP Id: rs1057516515

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028022_52028025del , CM000666.2:g.52028022_52028025del GRCh38
NC_000004.10:g.52588945_52588948del NCBI36
NC_000004.11:g.52894188_52894191del , CM000666.1:g.52894188_52894191del GRCh37
NG_008891.1:g.15298_15301del , LRG_204:g.15298_15301del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.9:c.699_702del ENSP00000370839.5:p.Phe233LeufsTer16
NM_000232.4:c.699_702del , LRG_204t1:c.699_702del NP_000223.1:p.Phe233LeufsTer16
XM_006714049.2:c.402_405del XP_006714112.1:p.Phe134LeufsTer16
XM_011534403.1:c.489_492del XP_011532705.1:p.Phe163LeufsTer16
XM_011534404.1:c.402_405del XP_011532706.1:p.Phe134LeufsTer16