Canonical Allele Identifier: CA1946977090
Gene: BET1L HGNC NCBI

Linked Data

dbSNP Id: rs1855068992

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.202958_202960del , CM000673.2:g.202958_202960del GRCh38
NC_000011.9:g.202958_202960del , CM000673.1:g.202958_202960del GRCh37
NC_000011.8:g.192958_192960del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382762.8:c.*2344_*2346del MANE Select ENSP00000372210.3:n.*2344_*2346del
ENST00000325147.13:c.*2512_*2514del ENSP00000339093.7:n.*2512_*2514del
ENST00000382762.7:c.*2344_*2346del ENSP00000372210.3:n.*2344_*2346del
ENST00000410108.5:c.168+2653_168+2655del ENSP00000386558.1:n.168+2653_168+2655del
NM_001098787.1:c.*2344_*2346del NP_001092257.1:n.*2344_*2346del
NM_016526.4:c.*2512_*2514del NP_057610.2:n.*2512_*2514del
NM_001098787.2:c.*2344_*2346del MANE Select NP_001092257.1:n.*2344_*2346del
NM_016526.5:c.*2512_*2514del NP_057610.2:n.*2512_*2514del