Canonical Allele Identifier: CA2686023128
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877751-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877755del , CM000670.2:g.6877755del GRCh38
NC_000008.10:g.6735277del , CM000670.1:g.6735277del GRCh37
NC_000008.9:g.6722687del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+45del MANE Select ENSP00000297439.3:n.61+45del
ENST00000297439.3:c.61+45del ENSP00000297439.3:n.61+45del
NM_005218.3:c.61+45del NP_005209.1:n.61+45del
NM_005218.4:c.61+45del MANE Select NP_005209.1:n.61+45del
Search 100 bp 5'
Search 100 bp 3'