Canonical Allele Identifier: CA4612855
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs775748460
ExAC: 8:6735269 A / AT
gnomAD v2: 8-6735269-A-AT
gnomAD v4: 8-6877747-A-AT
MyVariant Identifiers: chr8:g.6735269_6735270insT (hg19) chr8:g.6877747_6877748insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877749dup , CM000670.2:g.6877749dup GRCh38
NC_000008.10:g.6735271dup , CM000670.1:g.6735271dup GRCh37
NC_000008.9:g.6722681dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+49dup MANE Select ENSP00000297439.3:n.61+49dup
ENST00000297439.3:c.61+49dup ENSP00000297439.3:n.61+49dup
NM_005218.3:c.61+49dup NP_005209.1:n.61+49dup
NM_005218.4:c.61+49dup MANE Select NP_005209.1:n.61+49dup
Search 100 bp 5'
Search 100 bp 3'