Canonical Allele Identifier: CA2626382009
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204891-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204895del , CM000676.2:g.96204895del GRCh38
NC_000014.8:g.96671232del , CM000676.1:g.96671232del GRCh37
NC_000014.7:g.95740985del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-104del MANE Select ENSP00000450482.1:n.-104del
ENST00000539359.1:c.-346del ENSP00000438376.1:n.-346del
ENST00000542454.2:c.-2872del ENSP00000439459.2:n.-2872del
ENST00000553811.1:c.-99del ENSP00000450984.1:n.-99del
ENST00000554311.1:c.-104del ENSP00000450482.1:n.-104del
NM_000623.3:c.-99del NP_000614.1:n.-99del
NM_000623.4:c.-99del NP_000614.1:n.-99del
NM_001379692.1:c.-104del MANE Select NP_001366621.1:n.-104del
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