Canonical Allele Identifier: CA854600441

Gene: DEFB1

Linked Data

• dbSNP Id: rs1200853710
• gnomAD v3: 8-6870580-GC-G
• gnomAD v4: 8-6870580-GC-G
• MyVariant Identifiers: chr8:g.6728103del (hg19) ; chr8:g.6870581del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6870583del , CM000670.2:g.6870583del	GRCh38
NC_000008.10:g.6728105del , CM000670.1:g.6728105del	GRCh37
NC_000008.9:g.6715515del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.3:c.*100del	ENSP00000297439.3:n.*100del
NM_005218.3:c.*100del	NP_005209.1:n.*100del