Canonical Allele Identifier: CA2576161668

Gene: HES7

Linked Data

• gnomAD v4: 17-8121594-C-CGGGCGGCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121599_8121607dup , CM000679.2:g.8121599_8121607dup	GRCh38
NC_000017.10:g.8024917_8024925dup , CM000679.1:g.8024917_8024925dup	GRCh37
NC_000017.9:g.7965642_7965650dup	NCBI36
NG_015807.1:g.2314_2322dup
NG_015816.1:g.7490_7498dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.661_669dup MANE Select	ENSP00000446205.2:p.Pro223_Ala224insProProPro
ENST00000317814.8:c.646_654dup	ENSP00000314774.4:p.Pro218_Ala219insProProPro
ENST00000541682.6:c.661_669dup	ENSP00000446205.2:p.Pro223_Ala224insProProPro
NM_001165967.1:c.661_669dup	NP_001159439.1:p.Pro223_Ala224insProProPro
NM_032580.3:c.646_654dup	NP_115969.2:p.Pro218_Ala219insProProPro
XM_011524038.1:c.766_774dup	XP_011522340.1:p.Pro258_Ala259insProProPro
XM_011524039.1:c.757_765dup	XP_011522341.1:p.Pro255_Ala256insProProPro
XM_011524040.1:c.757_765dup	XP_011522342.1:p.Pro255_Ala256insProProPro
XM_011524041.1:c.748_756dup	XP_011522343.1:p.Pro252_Ala253insProProPro
XM_011524042.1:c.619_627dup	XP_011522344.1:p.Pro209_Ala210insProProPro
XR_934203.1:n.69+1785_69+1793dup
XM_017025232.1:c.766_774dup	XP_016880721.1:p.Pro258_Ala259insProProPro
XM_024451007.1:c.766_774dup	XP_024306775.1:p.Pro258_Ala259insProProPro
NM_001165967.2:c.661_669dup MANE Select	NP_001159439.1:p.Pro223_Ala224insProProPro
NM_032580.4:c.646_654dup	NP_115969.2:p.Pro218_Ala219insProProPro