Canonical Allele Identifier: CA2611631156
Gene: BET1L HGNC NCBI

Linked Data

gnomAD v4: 11-203003-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.203004del , CM000673.2:g.203004del GRCh38
NC_000011.9:g.203004del , CM000673.1:g.203004del GRCh37
NC_000011.8:g.193004del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382762.8:c.*2298del MANE Select ENSP00000372210.3:n.*2298del
ENST00000325147.13:c.*2466del ENSP00000339093.7:n.*2466del
ENST00000382762.7:c.*2298del ENSP00000372210.3:n.*2298del
ENST00000410108.5:c.168+2607del ENSP00000386558.1:n.168+2607del
NM_001098787.1:c.*2298del NP_001092257.1:n.*2298del
NM_016526.4:c.*2466del NP_057610.2:n.*2466del
NM_001098787.2:c.*2298del MANE Select NP_001092257.1:n.*2298del
NM_016526.5:c.*2466del NP_057610.2:n.*2466del
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