Canonical Allele Identifier: CA854600460
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1447236728
gnomAD v3: 8-6870599-CA-C
gnomAD v4: 8-6870599-CA-C
MyVariant Identifiers: chr8:g.6728122del (hg19) chr8:g.6870600del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870603del , CM000670.2:g.6870603del GRCh38
NC_000008.10:g.6728125del , CM000670.1:g.6728125del GRCh37
NC_000008.9:g.6715535del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.*81del MANE Select ENSP00000297439.3:n.*81del
ENST00000297439.3:c.*81del ENSP00000297439.3:n.*81del
NM_005218.3:c.*81del NP_005209.1:n.*81del
NM_005218.4:c.*81del MANE Select NP_005209.1:n.*81del
Search 100 bp 5'
Search 100 bp 3'