Canonical Allele Identifier: CA854608978
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1394355101
MyVariant Identifiers: chr8:g.6735281_6735282insCTGG (hg19) chr8:g.6877759_6877760insCTGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877760_6877763dup , CM000670.2:g.6877760_6877763dup GRCh38
NC_000008.10:g.6735282_6735285dup , CM000670.1:g.6735282_6735285dup GRCh37
NC_000008.9:g.6722692_6722695dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+34_61+37dup MANE Select ENSP00000297439.3:n.61+34_61+37dup
ENST00000297439.3:c.61+34_61+37dup ENSP00000297439.3:n.61+34_61+37dup
NM_005218.3:c.61+34_61+37dup NP_005209.1:n.61+34_61+37dup
NM_005218.4:c.61+34_61+37dup MANE Select NP_005209.1:n.61+34_61+37dup
Search 100 bp 5'
Search 100 bp 3'