Canonical Allele Identifier: CA2670598592
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52027872-AATT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027875_52027877del , CM000666.2:g.52027875_52027877del GRCh38
NC_000004.11:g.52894041_52894043del , CM000666.1:g.52894041_52894043del GRCh37
NC_000004.10:g.52588798_52588800del NCBI36
NG_008891.1:g.15445_15447del , LRG_204:g.15445_15447del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.753+93_753+95del MANE Select ENSP00000370839.6:n.753+93_753+95del
ENST00000381431.9:c.753+93_753+95del ENSP00000370839.5:n.753+93_753+95del
NM_000232.4:c.753+93_753+95del , LRG_204t1:c.753+93_753+95del NP_000223.1:n.753+93_753+95del
XM_006714049.2:c.456+93_456+95del XP_006714112.1:n.456+93_456+95del
XM_011534403.1:c.543+93_543+95del XP_011532705.1:n.543+93_543+95del
XM_011534404.1:c.456+93_456+95del XP_011532706.1:n.456+93_456+95del
NM_000232.5:c.753+93_753+95del MANE Select NP_000223.1:n.753+93_753+95del
Search 100 bp 5'
Search 100 bp 3'