Canonical Allele Identifier: CA2597764583
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1433255341
gnomAD v3: 4-52033288-GT-G
gnomAD v4: 4-52033288-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033295del , CM000666.2:g.52033295del GRCh38
NC_000004.11:g.52899461del , CM000666.1:g.52899461del GRCh37
NC_000004.10:g.52594218del NCBI36
NG_008891.1:g.10031del , LRG_204:g.10031del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.243+142del MANE Select ENSP00000370839.6:n.243+142del
ENST00000381431.9:c.243+142del ENSP00000370839.5:n.243+142del
ENST00000506357.5:c.229+142del
ENST00000514133.1:c.210+142del ENSP00000425818.1:n.210+142del
NM_000232.4:c.243+142del , LRG_204t1:c.243+142del NP_000223.1:n.243+142del
XM_006714049.2:c.-165+142del XP_006714112.1:n.-165+142del
XM_011534403.1:c.34-3426del XP_011532705.1:n.34-3426del
XM_011534404.1:c.-142+142del XP_011532706.1:n.-142+142del
NM_000232.5:c.243+142del MANE Select NP_000223.1:n.243+142del
Search 100 bp 5'
Search 100 bp 3'