Canonical Allele Identifier: CA1761183391
Gene: DEFB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870580_6870581delinsGC , CM000670.2:g.6870580_6870581delinsGC GRCh38
NC_000008.10:g.6728102_6728103delinsGC , CM000670.1:g.6728102_6728103delinsGC GRCh37
NC_000008.9:g.6715512_6715513delinsGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.3:c.*100_*101delinsGC ENSP00000297439.3:n.*100_*101delinsGC
NM_005218.3:c.*100_*101delinsGC NP_005209.1:n.*100_*101delinsGC
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