Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA216874344

Gene: BET1L HGNC NCBI

Linked Data

dbSNP Id: rs11245995

gnomAD v2: 11-202780-T-G

gnomAD v3: 11-202780-T-G

gnomAD v4: 11-202780-T-G

MyVariant Identifiers: chr11:g.202780T>G (hg19) chr11:g.202780_202835delinsGGTGCTCATGGCCAGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCA (hg19) chr11:g.202780T>G (hg38) chr11:g.202780_202835delinsGGTGCTCATGGCCAGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.202780T>G , CM000673.2:g.202780T>G	GRCh38
NC_000011.9:g.202780T>G , CM000673.1:g.202780T>G	GRCh37
NC_000011.8:g.192780T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000410108.5:c.168+2831A>C	ENSP00000386558.1:n.168+2831A>C

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