Canonical Allele Identifier: CA1062469253
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1737139700
gnomAD v3: 4-52027820-TTC-T
gnomAD v4: 4-52027820-TTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027822_52027823del , CM000666.2:g.52027822_52027823del GRCh38
NC_000004.11:g.52893988_52893989del , CM000666.1:g.52893988_52893989del GRCh37
NC_000004.10:g.52588745_52588746del NCBI36
NG_008891.1:g.15498_15499del , LRG_204:g.15498_15499del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.753+146_753+147del MANE Select ENSP00000370839.6:n.753+146_753+147del
ENST00000381431.9:c.753+146_753+147del ENSP00000370839.5:n.753+146_753+147del
NM_000232.4:c.753+146_753+147del , LRG_204t1:c.753+146_753+147del NP_000223.1:n.753+146_753+147del
XM_006714049.2:c.456+146_456+147del XP_006714112.1:n.456+146_456+147del
XM_011534403.1:c.543+146_543+147del XP_011532705.1:n.543+146_543+147del
XM_011534404.1:c.456+146_456+147del XP_011532706.1:n.456+146_456+147del
NM_000232.5:c.753+146_753+147del MANE Select NP_000223.1:n.753+146_753+147del
Search 100 bp 5'
Search 100 bp 3'