Canonical Allele Identifier: CA934230278
Gene: BET1L HGNC NCBI

Linked Data

gnomAD v3: 11-202763-G-GCAGGGTTTACAGCACCGGTGCTCATGGCCAGCCACGGAGTGAATGAGGGAAGGGA
gnomAD v4: 11-202763-G-GCAGGGTTTACAGCACCGGTGCTCATGGCCAGCCACGGAGTGAATGAGGGAAGGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.202779_202780insGGTGCTCATGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACC , CM000673.2:g.202779_202780insGGTGCTCATGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACC GRCh38
NC_000011.9:g.202779_202780insGGTGCTCATGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACC , CM000673.1:g.202779_202780insGGTGCTCATGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACC GRCh37
NC_000011.8:g.192779_192780insGGTGCTCATGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACC NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000410108.5:c.168+2847_168+2848insTCCCTTCCCTCATTCACTCCGTGGCTGGCCATGAGCACCGGTGCTGTAAACCCTG ENSP00000386558.1:n.168+2847_168+2848insT...
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