Canonical Allele Identifier: CA2345056041
Gene: DEFB126 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.145517_145519delinsAAC , CM000682.2:g.145517_145519delinsAAC GRCh38
NC_000020.10:g.126158_126160delinsAAC , CM000682.1:g.126158_126160delinsAAC GRCh37
NC_000020.9:g.74158_74160delinsAAC NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382398.4:c.161_163delinsAAC MANE Select ENSP00000371835.3:p.Lys54=
ENST00000382398.3:c.161_163delinsAAC ENSP00000371835.3:p.Lys54=
ENST00000542572.1:n.127+29_127+31delinsAAC
NM_030931.3:c.161_163delinsAAC NP_112193.1:p.Lys54=
NM_030931.4:c.161_163delinsAAC MANE Select NP_112193.1:p.Lys54=
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