Canonical Allele Identifier: CA216874325

Gene: BET1L

Linked Data

• dbSNP Id: rs112762297
• gnomAD v2: 11-202763-G-A
• gnomAD v3: 11-202763-G-A
• gnomAD v4: 11-202763-G-A
• MyVariant Identifiers: chr11:g.202763G>A (hg19) ; chr11:g.202763_202818delinsACAGGGTTTACAGCACCTGTGCTCATGGCCAGCCACGGGGTGAATGAGGGAAGGGA (hg19) ; chr11:g.202763G>A (hg38) ; chr11:g.202763_202818delinsACAGGGTTTACAGCACCTGTGCTCATGGCCAGCCACGGGGTGAATGAGGGAAGGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.202763G>A , CM000673.2:g.202763G>A	GRCh38
NC_000011.9:g.202763G>A , CM000673.1:g.202763G>A	GRCh37
NC_000011.8:g.192763G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000410108.5:c.168+2848C>T	ENSP00000386558.1:n.168+2848C>T