×
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.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA596768573
Gene: BET1L
HGNC
NCBI
Linked Data
dbSNP Id:
rs1564795173
gnomAD v2:
11-202778-C-CTGGTG
gnomAD v3:
11-202778-C-CTGGTG
gnomAD v4:
11-202778-C-CTGGTG
MyVariant Identifiers:
chr11:g.202778_202779insTGGTG (hg19)
chr11:g.202778_202779insTGGTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.202778_202779insTGGTG , CM000673.2:g.202778_202779insTGGTG
GRCh38
NC_000011.9:g.202778_202779insTGGTG , CM000673.1:g.202778_202779insTGGTG
GRCh37
NC_000011.8:g.192778_192779insTGGTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000410108.5:c.168+2832_168+2833insCACCA
ENSP00000386558.1:n.168+2832_168+2833insC...
Search 100 bp 5'
Search 100 bp 3'