Canonical Allele Identifier: CA4763842

Gene: BHLHE22 BHLHE22-AS1

Linked Data

• dbSNP Id: rs748656496
• ExAC: 8:65493996 G / GGCGGTA
• gnomAD v2: 8-65493996-G-GGCGGTA
• gnomAD v3: 8-64581439-G-GGCGGTA
• gnomAD v4: 8-64581439-G-GGCGGTA
• MyVariant Identifiers: chr8:g.65494013_65494023delinsTAGCGGCAGCGGCGGCA (hg19) ; chr8:g.65494002_65494003insGCGGTA (hg19) ; chr8:g.65493996_65493997insGCGGTA (hg19) ; chr8:g.64581456_64581466delinsTAGCGGCAGCGGCGGCA (hg38) ; chr8:g.64581445_64581446insGCGGTA (hg38) ; chr8:g.64581439_64581440insGCGGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64581450_64581455dup , CM000670.2:g.64581450_64581455dup	GRCh38
NC_000008.10:g.65494007_65494012dup , CM000670.1:g.65494007_65494012dup	GRCh37
NC_000008.9:g.65656561_65656566dup	NCBI36
NG_051813.1:g.6213_6218dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321870.3:c.660_665dup (BHLHE22) MANE Select	ENSP00000318799.1:p.Gly222_Ser223insSerGly
ENST00000321870.2:c.660_665dup (BHLHE22)	ENSP00000318799.1:p.Gly222_Ser223insSerGly
NM_152414.4:c.660_665dup (BHLHE22)	NP_689627.1:p.Gly222_Ser223insSerGly
NR_152770.1:n.175+273_175+278dup (BHLHE22-AS1)
NM_152414.5:c.660_665dup (BHLHE22) MANE Select	NP_689627.1:p.Gly222_Ser223insSerGly