Canonical Allele Identifier: CA2918506
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 1011323
ClinVar RCV Id: RCV001309094 RCV002509656
dbSNP Id: rs780654411
ExAC: 4:52899750 CCTT / C
gnomAD v2: 4-52899750-CCTT-C
gnomAD v3: 4-52033584-CCTT-C
gnomAD v4: 4-52033584-CCTT-C
MyVariant Identifiers: chr4:g.52899751_52899753del (hg19) chr4:g.52033585_52033587del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033587_52033589del , CM000666.2:g.52033587_52033589del GRCh38
NC_000004.11:g.52899753_52899755del , CM000666.1:g.52899753_52899755del GRCh37
NC_000004.10:g.52594510_52594512del NCBI36
NG_008891.1:g.9733_9735del , LRG_204:g.9733_9735del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.87_89del MANE Select ENSP00000370839.6:p.Arg30del
ENST00000381431.9:c.87_89del ENSP00000370839.5:p.Arg30del
ENST00000506357.5:c.73_75del
ENST00000514133.1:c.54_56del ENSP00000425818.1:p.Arg19del
NM_000232.4:c.87_89del , LRG_204t1:c.87_89del NP_000223.1:p.Arg30del
XM_011534403.1:c.34-3724_34-3722del XP_011532705.1:n.34-3724_34-3722del
NM_000232.5:c.87_89del MANE Select NP_000223.1:p.Arg30del
Search 100 bp 5'
Search 100 bp 3'