Canonical Allele Identifier: CA652031397
Gene: DEFB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877778_6877779insA , CM000670.2:g.6877778_6877779insA GRCh38
NC_000008.10:g.6735300_6735301insA , CM000670.1:g.6735300_6735301insA GRCh37
NC_000008.9:g.6722710_6722711insA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+18_61+19insT MANE Select ENSP00000297439.3:n.61+18_61+19insT
ENST00000297439.3:c.61+18_61+19insT ENSP00000297439.3:n.61+18_61+19insT
NM_005218.3:c.61+18_61+19insT NP_005209.1:n.61+18_61+19insT
NM_005218.4:c.61+18_61+19insT MANE Select NP_005209.1:n.61+18_61+19insT