Canonical Allele Identifier: CA2246159968
Gene: HES7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121656_8121659delinsGGCA , CM000679.2:g.8121656_8121659delinsGGCA GRCh38
NC_000017.10:g.8024974_8024977delinsGGCA , CM000679.1:g.8024974_8024977delinsGGCA GRCh37
NC_000017.9:g.7965699_7965702delinsGGCA NCBI36
NG_015807.1:g.2258_2261delinsTGCC
NG_015816.1:g.7434_7437delinsTGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.605_608delinsTGCC MANE Select ENSP00000446205.2:p.Leu202=
ENST00000317814.8:c.590_593delinsTGCC ENSP00000314774.4:p.Leu197=
ENST00000541682.6:c.605_608delinsTGCC ENSP00000446205.2:p.Leu202=
NM_001165967.1:c.605_608delinsTGCC NP_001159439.1:p.Leu202=
NM_032580.3:c.590_593delinsTGCC NP_115969.2:p.Leu197=
XM_011524038.1:c.710_713delinsTGCC XP_011522340.1:p.Leu237=
XM_011524039.1:c.701_704delinsTGCC XP_011522341.1:p.Leu234=
XM_011524040.1:c.701_704delinsTGCC XP_011522342.1:p.Leu234=
XM_011524041.1:c.692_695delinsTGCC XP_011522343.1:p.Leu231=
XM_011524042.1:c.563_566delinsTGCC XP_011522344.1:p.Leu188=
XR_934203.1:n.69+1842_69+1845delinsGGCA
XM_017025232.1:c.710_713delinsTGCC XP_016880721.1:p.Leu237=
XM_024451007.1:c.710_713delinsTGCC XP_024306775.1:p.Leu237=
NM_001165967.2:c.605_608delinsTGCC MANE Select NP_001159439.1:p.Leu202=
NM_032580.4:c.590_593delinsTGCC NP_115969.2:p.Leu197=