Canonical Allele Identifier: CA2598539570
Gene: BDKRB2 HGNC NCBI

Linked Data

gnomAD v3: 14-96204887-ACGGTG-A
gnomAD v4: 14-96204887-ACGGTG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.96204888_96204892del , CM000676.2:g.96204888_96204892del GRCh38
NC_000014.8:g.96671225_96671229del , CM000676.1:g.96671225_96671229del GRCh37
NC_000014.7:g.95740978_95740982del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554311.2:c.-111_-107del MANE Select ENSP00000450482.1:n.-111_-107del
ENST00000539359.1:c.-353_-349del ENSP00000438376.1:n.-353_-349del
ENST00000542454.2:c.-2879_-2875del ENSP00000439459.2:n.-2879_-2875del
ENST00000553811.1:c.-106_-102del ENSP00000450984.1:n.-106_-102del
ENST00000554311.1:c.-111_-107del ENSP00000450482.1:n.-111_-107del
NM_000623.3:c.-106_-102del NP_000614.1:n.-106_-102del
NM_000623.4:c.-106_-102del NP_000614.1:n.-106_-102del
NM_001379692.1:c.-111_-107del MANE Select NP_001366621.1:n.-111_-107del
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