Canonical Allele Identifier: CA2808397532
Gene: HES7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121601dup , CM000679.2:g.8121601dup GRCh38
NC_000017.10:g.8024919dup , CM000679.1:g.8024919dup GRCh37
NC_000017.9:g.7965644dup NCBI36
NG_015807.1:g.2316dup
NG_015816.1:g.7492dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.663dup MANE Select ENSP00000446205.2:p.Pro222AlafsTer24
ENST00000317814.8:c.648dup ENSP00000314774.4:p.Pro217AlafsTer?
ENST00000541682.6:c.663dup ENSP00000446205.2:p.Pro222AlafsTer24
NM_001165967.1:c.663dup NP_001159439.1:p.Pro222AlafsTer24
NM_032580.3:c.648dup NP_115969.2:p.Pro217AlafsTer24
XM_011524038.1:c.768dup XP_011522340.1:p.Pro257AlafsTer24
XM_011524039.1:c.759dup XP_011522341.1:p.Pro254AlafsTer24
XM_011524040.1:c.759dup XP_011522342.1:p.Pro254AlafsTer24
XM_011524041.1:c.750dup XP_011522343.1:p.Pro251AlafsTer24
XM_011524042.1:c.621dup XP_011522344.1:p.Pro208AlafsTer24
XR_934203.1:n.69+1787dup
XM_017025232.1:c.768dup XP_016880721.1:p.Pro257AlafsTer24
XM_024451007.1:c.768dup XP_024306775.1:p.Pro257AlafsTer24
NM_001165967.2:c.663dup MANE Select NP_001159439.1:p.Pro222AlafsTer24
NM_032580.4:c.648dup NP_115969.2:p.Pro217AlafsTer24