Canonical Allele Identifier: CA145910
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 92658
ClinVar RCV Id: RCV000078409
dbSNP Id: rs398123261
MyVariant Identifiers: chr4:g.52904445del (hg19) chr4:g.52904445delC (hg19) chr4:g.52038279del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038280del , CM000666.2:g.52038280del GRCh38
NC_000004.11:g.52904446del , CM000666.1:g.52904446del GRCh37
NC_000004.10:g.52599203del NCBI36
NG_008891.1:g.5041del , LRG_204:g.5041del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-20del MANE Select ENSP00000370839.6:n.-20del
ENST00000381431.9:c.-20del ENSP00000370839.5:n.-20del
NM_000232.4:c.-20del , LRG_204t1:c.-20del NP_000223.1:n.-20del
XM_011534403.1:c.-20del XP_011532705.1:n.-20del
NM_000232.5:c.-20del MANE Select NP_000223.1:n.-20del
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