Canonical Allele Identifier: CA2635936677

Gene: HES7

Linked Data

• gnomAD v4: 17-8121601-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121606dup , CM000679.2:g.8121606dup	GRCh38
NC_000017.10:g.8024924dup , CM000679.1:g.8024924dup	GRCh37
NC_000017.9:g.7965649dup	NCBI36
NG_015807.1:g.2315dup
NG_015816.1:g.7491dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.662dup MANE Select	ENSP00000446205.2:p.Pro222AlafsTer24
ENST00000317814.8:c.647dup	ENSP00000314774.4:p.Pro217AlafsTer?
ENST00000541682.6:c.662dup	ENSP00000446205.2:p.Pro222AlafsTer24
NM_001165967.1:c.662dup	NP_001159439.1:p.Pro222AlafsTer24
NM_032580.3:c.647dup	NP_115969.2:p.Pro217AlafsTer24
XM_011524038.1:c.767dup	XP_011522340.1:p.Pro257AlafsTer24
XM_011524039.1:c.758dup	XP_011522341.1:p.Pro254AlafsTer24
XM_011524040.1:c.758dup	XP_011522342.1:p.Pro254AlafsTer24
XM_011524041.1:c.749dup	XP_011522343.1:p.Pro251AlafsTer24
XM_011524042.1:c.620dup	XP_011522344.1:p.Pro208AlafsTer24
XR_934203.1:n.69+1792dup
XM_017025232.1:c.767dup	XP_016880721.1:p.Pro257AlafsTer24
XM_024451007.1:c.767dup	XP_024306775.1:p.Pro257AlafsTer24
NM_001165967.2:c.662dup MANE Select	NP_001159439.1:p.Pro222AlafsTer24
NM_032580.4:c.647dup	NP_115969.2:p.Pro217AlafsTer24