Canonical Allele Identifier: CA934230315

Gene: BET1L

Linked Data

• dbSNP Id: rs1564795221
• gnomAD v3: 11-202835-A-ATGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCG
• gnomAD v4: 11-202835-A-ATGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.202835_202836insTGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCG , CM000673.2:g.202835_202836insTGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCG	GRCh38
NC_000011.9:g.202835_202836insTGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCG , CM000673.1:g.202835_202836insTGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCG	GRCh37
NC_000011.8:g.192835_192836insTGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000410108.5:c.168+2775_168+2776insCGGTGCTGTAAACCCTGTCCCTTCCCTCATTCACTCCGTGGCTGGCCA	ENSP00000386558.1:n.168+2775_168+2776insCGGTGCTGTAAACCCTGTCCC...