Canonical Allele Identifier: CA796079153
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2712694
ClinVar RCV Id: RCV003510806
dbSNP Id: rs1307383470
gnomAD v4: 4-52028715-GC-G
MyVariant Identifiers: chr4:g.52894882del (hg19) chr4:g.52028716del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028717del , CM000666.2:g.52028717del GRCh38
NC_000004.11:g.52894883del , CM000666.1:g.52894883del GRCh37
NC_000004.10:g.52589640del NCBI36
NG_008891.1:g.14604del , LRG_204:g.14604del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.621+14del MANE Select ENSP00000370839.6:n.621+14del
ENST00000381431.9:c.621+14del ENSP00000370839.5:n.621+14del
NM_000232.4:c.621+14del , LRG_204t1:c.621+14del NP_000223.1:n.621+14del
XM_006714049.2:c.324+14del XP_006714112.1:n.324+14del
XM_011534403.1:c.411+14del XP_011532705.1:n.411+14del
XM_011534404.1:c.324+14del XP_011532706.1:n.324+14del
NM_000232.5:c.621+14del MANE Select NP_000223.1:n.621+14del
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