Canonical Allele Identifier: CA16040955
Gene: SGCB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370264
ClinVar RCV Id: RCV000412246
dbSNP Id: rs1057516360

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033457_52033460del , CM000666.2:g.52033457_52033460del GRCh38
NC_000004.10:g.52594380_52594383del NCBI36
NC_000004.11:g.52899623_52899626del , CM000666.1:g.52899623_52899626del GRCh37
NG_008891.1:g.9862_9865del , LRG_204:g.9862_9865del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.9:c.216_219del ENSP00000370839.5:p.Phe73SerfsTer7
ENST00000506357.5:n.202_205del
ENST00000514133.1:n.183_186del ENSP00000425818.1:p.Phe62SerfsTer7
NM_000232.4:c.216_219del , LRG_204t1:c.216_219del NP_000223.1:p.Phe73SerfsTer7
XM_006714049.2:c.-192_-189del XP_006714112.1:p.=
XM_011534403.1:c.34-3595_34-3592del XP_011532705.1:p.=
XM_011534404.1:c.-169_-166del XP_011532706.1:p.=