Canonical Allele Identifier: CA579664813
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1259598431
gnomAD v2: 8-6735435-T-TGGAGGCTGAGCTGACAGAGGCTTCC
gnomAD v3: 8-6877913-T-TGGAGGCTGAGCTGACAGAGGCTTCC
gnomAD v4: 8-6877913-T-TGGAGGCTGAGCTGACAGAGGCTTCC
MyVariant Identifiers: chr8:g.6735435_6735436insGGAGGCTGAGCTGACAGAGGCTTCC (hg19) chr8:g.6877913_6877914insGGAGGCTGAGCTGACAGAGGCTTCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877914_6877938dup , CM000670.2:g.6877914_6877938dup GRCh38
NC_000008.10:g.6735436_6735460dup , CM000670.1:g.6735436_6735460dup GRCh37
NC_000008.9:g.6722846_6722870dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.3:c.-81_-57dup ENSP00000297439.3:n.-81_-57dup
NM_005218.3:c.-81_-57dup NP_005209.1:n.-81_-57dup
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