Canonical Allele Identifier: CA249403
Gene: BHLHE22 HGNC NCBI
BHLHE22-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 218845
ClinVar RCV Id: RCV000203196
dbSNP Id: rs763704164
ExAC: 8:65494007 T / TAGCGGC
gnomAD v2: 8-65494007-T-TAGCGGC
gnomAD v3: 8-64581450-T-TAGCGGC
gnomAD v4: 8-64581450-T-TAGCGGC
COSMIC: COSM1292723
MyVariant Identifiers: chr8:g.65494016_65494017insGGCAGC (hg19) chr8:g.65494007_65494008insAGCGGC (hg19) chr8:g.64581450_64581451insAGCGGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64581457_64581462dup , CM000670.2:g.64581457_64581462dup GRCh38
NC_000008.10:g.65494014_65494019dup , CM000670.1:g.65494014_65494019dup GRCh37
NC_000008.9:g.65656568_65656573dup NCBI36
NG_051813.1:g.6220_6225dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000321870.3:c.667_672dup (BHLHE22) MANE Select ENSP00000318799.1:p.Gly224_Gly225insSerGly
ENST00000321870.2:c.667_672dup (BHLHE22) ENSP00000318799.1:p.Gly224_Gly225insSerGly
NM_152414.4:c.667_672dup (BHLHE22) NP_689627.1:p.Gly224_Gly225insSerGly
NR_152770.1:n.175+262_175+267dup (BHLHE22-AS1)
NM_152414.5:c.667_672dup (BHLHE22) MANE Select NP_689627.1:p.Gly224_Gly225insSerGly
Search 100 bp 5'
Search 100 bp 3'