Canonical Allele Identifier: CA2670614615
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52038236-AGCCGCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038245_52038250del , CM000666.2:g.52038245_52038250del GRCh38
NC_000004.11:g.52904411_52904416del , CM000666.1:g.52904411_52904416del GRCh37
NC_000004.10:g.52599168_52599173del NCBI36
NG_008891.1:g.5078_5083del , LRG_204:g.5078_5083del

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.18_23del MANE Select ENSP00000370839.6:p.Ala7_Ala8del
ENST00000381431.9:c.18_23del ENSP00000370839.5:p.Ala7_Ala8del
NM_000232.4:c.18_23del , LRG_204t1:c.18_23del NP_000223.1:p.Ala7_Ala8del
XM_011534403.1:c.18_23del XP_011532705.1:p.Ala7_Ala8del
NM_000232.5:c.18_23del MANE Select NP_000223.1:p.Ala7_Ala8del
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