Canonical Allele Identifier: CA2626382035
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v4: 14-96204910-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204911del , CM000676.2:g.96204911del GRCh38
NC_000014.8:g.96671248del , CM000676.1:g.96671248del GRCh37
NC_000014.7:g.95741001del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-88del MANE Select ENSP00000450482.1:n.-88del
ENST00000539359.1:c.-330del ENSP00000438376.1:n.-330del
ENST00000542454.2:c.-2856del ENSP00000439459.2:n.-2856del
ENST00000553811.1:c.-83del ENSP00000450984.1:n.-83del
ENST00000554311.1:c.-88del ENSP00000450482.1:n.-88del
NM_000623.3:c.-83del NP_000614.1:n.-83del
NM_000623.4:c.-83del NP_000614.1:n.-83del
NM_001379692.1:c.-88del MANE Select NP_001366621.1:n.-88del
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