Canonical Allele Identifier: CA4612902

Gene: DEFB1

Linked Data

• dbSNP Id: rs768985351
• ExAC: 8:6735406 TTC / T
• gnomAD v2: 8-6735406-TTC-T
• MyVariant Identifiers: chr8:g.6735407_6735408del (hg19) ; chr8:g.6877885_6877886del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877885_6877886del , CM000670.2:g.6877885_6877886del	GRCh38
NC_000008.10:g.6735407_6735408del , CM000670.1:g.6735407_6735408del	GRCh37
NC_000008.9:g.6722817_6722818del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.-29_-28del MANE Select	ENSP00000297439.3:n.-29_-28del
ENST00000297439.3:c.-29_-28del	ENSP00000297439.3:n.-29_-28del
NM_005218.3:c.-29_-28del	NP_005209.1:n.-29_-28del
NM_005218.4:c.-29_-28del MANE Select	NP_005209.1:n.-29_-28del