Canonical Allele Identifier: CA2591890012
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs2117205306
gnomAD v3: 8-6870591-G-GTA
gnomAD v4: 8-6870591-G-GTA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870594_6870595dup , CM000670.2:g.6870594_6870595dup GRCh38
NC_000008.10:g.6728116_6728117dup , CM000670.1:g.6728116_6728117dup GRCh37
NC_000008.9:g.6715526_6715527dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.3:c.*88_*89dup ENSP00000297439.3:n.*88_*89dup
NM_005218.3:c.*88_*89dup NP_005209.1:n.*88_*89dup
Search 100 bp 5'
Search 100 bp 3'