Canonical Allele Identifier: CA2670614613
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52038233-TGCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038236_52038238del , CM000666.2:g.52038236_52038238del GRCh38
NC_000004.11:g.52904402_52904404del , CM000666.1:g.52904402_52904404del GRCh37
NC_000004.10:g.52599159_52599161del NCBI36
NG_008891.1:g.5084_5086del , LRG_204:g.5084_5086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.24_26del MANE Select ENSP00000370839.6:p.Ala9del
ENST00000381431.9:c.24_26del ENSP00000370839.5:p.Ala9del
ENST00000506357.5:c.10_12del
NM_000232.4:c.24_26del , LRG_204t1:c.24_26del NP_000223.1:p.Ala9del
XM_011534403.1:c.24_26del XP_011532705.1:p.Ala9del
NM_000232.5:c.24_26del MANE Select NP_000223.1:p.Ala9del
Search 100 bp 5'
Search 100 bp 3'