Canonical Allele Identifier: CA2808397533
Gene: HES7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121608_8121609insCAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGG , CM000679.2:g.8121608_8121609insCAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGG GRCh38
NC_000017.10:g.8024926_8024927insCAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGG , CM000679.1:g.8024926_8024927insCAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGG GRCh37
NC_000017.9:g.7965651_7965652insCAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGG NCBI36
NG_015807.1:g.2308_2309insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG
NG_015816.1:g.7484_7485insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.655_656insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG MANE Select ENSP00000446205.2:p.Leu219ProfsTer?
ENST00000317814.8:c.640_641insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG ENSP00000314774.4:p.Leu214ProfsTer?
ENST00000541682.6:c.655_656insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG ENSP00000446205.2:p.Leu219ProfsTer?
NM_001165967.1:c.655_656insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG NP_001159439.1:p.Leu219ProfsTer?
NM_032580.3:c.640_641insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG NP_115969.2:p.Leu214ProfsTer?
XM_011524038.1:c.760_761insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG XP_011522340.1:p.Leu254ProfsTer?
XM_011524039.1:c.751_752insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG XP_011522341.1:p.Leu251ProfsTer?
XM_011524040.1:c.751_752insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG XP_011522342.1:p.Leu251ProfsTer?
XM_011524041.1:c.742_743insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG XP_011522343.1:p.Leu248ProfsTer?
XM_011524042.1:c.613_614insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG XP_011522344.1:p.Leu205ProfsTer?
XR_934203.1:n.69+1794_69+1795insCAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGG
XM_017025232.1:c.760_761insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG XP_016880721.1:p.Leu254ProfsTer?
XM_024451007.1:c.760_761insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG XP_024306775.1:p.Leu254ProfsTer?
NM_001165967.2:c.655_656insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG MANE Select NP_001159439.1:p.Leu219ProfsTer?
NM_032580.4:c.640_641insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG NP_115969.2:p.Leu214ProfsTer?