Canonical Allele Identifier: CA2670599136
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52029673-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029675del , CM000666.2:g.52029675del GRCh38
NC_000004.11:g.52895841del , CM000666.1:g.52895841del GRCh37
NC_000004.10:g.52590598del NCBI36
NG_008891.1:g.13646del , LRG_204:g.13646del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.429+4del MANE Select ENSP00000370839.6:n.429+4del
ENST00000381431.9:c.429+4del ENSP00000370839.5:n.429+4del
ENST00000506357.5:c.512+4del
ENST00000514133.1:c.506+4del ENSP00000425818.1:n.506+4del
NM_000232.4:c.429+4del , LRG_204t1:c.429+4del NP_000223.1:n.429+4del
XM_006714049.2:c.132+4del XP_006714112.1:n.132+4del
XM_011534403.1:c.219+4del XP_011532705.1:n.219+4del
XM_011534404.1:c.132+4del XP_011532706.1:n.132+4del
NM_000232.5:c.429+4del MANE Select NP_000223.1:n.429+4del
Search 100 bp 5'
Search 100 bp 3'