Canonical Allele Identifier: CA2586973771
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52028799-ATAGTCTGTGCT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028800_52028810del , CM000666.2:g.52028800_52028810del GRCh38
NC_000004.11:g.52894966_52894976del , CM000666.1:g.52894966_52894976del GRCh37
NC_000004.10:g.52589723_52589733del NCBI36
NG_008891.1:g.14510_14520del , LRG_204:g.14510_14520del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.541_551del MANE Select ENSP00000370839.6:p.Ser181Ter
ENST00000381431.9:c.541_551del ENSP00000370839.5:p.Ser181Ter
ENST00000506357.5:c.624_634del
NM_000232.4:c.541_551del , LRG_204t1:c.541_551del NP_000223.1:p.Ser181Ter
XM_006714049.2:c.244_254del XP_006714112.1:p.Ser82Ter
XM_011534403.1:c.331_341del XP_011532705.1:p.Ser111Ter
XM_011534404.1:c.244_254del XP_011532706.1:p.Ser82Ter
NM_000232.5:c.541_551del MANE Select NP_000223.1:p.Ser181Ter
Search 100 bp 5'
Search 100 bp 3'