Canonical Allele Identifier: CA2808397535
Gene: HES7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121760_8121774del , CM000679.2:g.8121760_8121774del GRCh38
NC_000017.10:g.8025078_8025092del , CM000679.1:g.8025078_8025092del GRCh37
NC_000017.9:g.7965803_7965817del NCBI36
NG_015807.1:g.2143_2157del
NG_015816.1:g.7319_7333del

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.490_504del MANE Select ENSP00000446205.2:p.His164_Pro168del
ENST00000317814.8:c.475_489del ENSP00000314774.4:p.His159_Pro163del
ENST00000541682.6:c.490_504del ENSP00000446205.2:p.His164_Pro168del
NM_001165967.1:c.490_504del NP_001159439.1:p.His164_Pro168del
NM_032580.3:c.475_489del NP_115969.2:p.His159_Pro163del
XM_011524038.1:c.595_609del XP_011522340.1:p.His199_Pro203del
XM_011524039.1:c.586_600del XP_011522341.1:p.His196_Pro200del
XM_011524040.1:c.586_600del XP_011522342.1:p.His196_Pro200del
XM_011524041.1:c.577_591del XP_011522343.1:p.His193_Pro197del
XM_011524042.1:c.448_462del XP_011522344.1:p.His150_Pro154del
XR_934203.1:n.69+1946_69+1960del
XM_017025232.1:c.595_609del XP_016880721.1:p.His199_Pro203del
XM_024451007.1:c.595_609del XP_024306775.1:p.His199_Pro203del
NM_001165967.2:c.490_504del MANE Select NP_001159439.1:p.His164_Pro168del
NM_032580.4:c.475_489del NP_115969.2:p.His159_Pro163del