Canonical Allele Identifier: CA1110234116
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1806592735
gnomAD v3: 8-6877868-AG-A
gnomAD v4: 8-6877868-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877870del , CM000670.2:g.6877870del GRCh38
NC_000008.10:g.6735392del , CM000670.1:g.6735392del GRCh37
NC_000008.9:g.6722802del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.-12del MANE Select ENSP00000297439.3:n.-12del
ENST00000297439.3:c.-12del ENSP00000297439.3:n.-12del
NM_005218.3:c.-12del NP_005209.1:n.-12del
NM_005218.4:c.-12del MANE Select NP_005209.1:n.-12del
Search 100 bp 5'
Search 100 bp 3'