Canonical Allele Identifier: CA2626381978
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204873-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204877del , CM000676.2:g.96204877del GRCh38
NC_000014.8:g.96671214del , CM000676.1:g.96671214del GRCh37
NC_000014.7:g.95740967del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-122del MANE Select ENSP00000450482.1:n.-122del
ENST00000539359.1:c.-364del ENSP00000438376.1:n.-364del
ENST00000542454.2:c.-2890del ENSP00000439459.2:n.-2890del
ENST00000553811.1:c.-117del ENSP00000450984.1:n.-117del
ENST00000554311.1:c.-122del ENSP00000450482.1:n.-122del
NM_000623.3:c.-117del NP_000614.1:n.-117del
NM_000623.4:c.-117del NP_000614.1:n.-117del
NM_001379692.1:c.-122del MANE Select NP_001366621.1:n.-122del
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