Canonical Allele Identifier: CA2635936713

Gene: HES7

Linked Data

• gnomAD v4: 17-8121610-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121610_8121611insA , CM000679.2:g.8121610_8121611insA	GRCh38
NC_000017.10:g.8024928_8024929insA , CM000679.1:g.8024928_8024929insA	GRCh37
NC_000017.9:g.7965653_7965654insA	NCBI36
NG_015807.1:g.2306_2307insT
NG_015816.1:g.7482_7483insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.653_654insT MANE Select	ENSP00000446205.2:p.Leu219AlafsTer27
ENST00000317814.8:c.638_639insT	ENSP00000314774.4:p.Leu214AlafsTer?
ENST00000541682.6:c.653_654insT	ENSP00000446205.2:p.Leu219AlafsTer27
NM_001165967.1:c.653_654insT	NP_001159439.1:p.Leu219AlafsTer27
NM_032580.3:c.638_639insT	NP_115969.2:p.Leu214AlafsTer27
XM_011524038.1:c.758_759insT	XP_011522340.1:p.Leu254AlafsTer27
XM_011524039.1:c.749_750insT	XP_011522341.1:p.Leu251AlafsTer27
XM_011524040.1:c.749_750insT	XP_011522342.1:p.Leu251AlafsTer27
XM_011524041.1:c.740_741insT	XP_011522343.1:p.Leu248AlafsTer27
XM_011524042.1:c.611_612insT	XP_011522344.1:p.Leu205AlafsTer27
XR_934203.1:n.69+1796_69+1797insA
XM_017025232.1:c.758_759insT	XP_016880721.1:p.Leu254AlafsTer27
XM_024451007.1:c.758_759insT	XP_024306775.1:p.Leu254AlafsTer27
NM_001165967.2:c.653_654insT MANE Select	NP_001159439.1:p.Leu219AlafsTer27
NM_032580.4:c.638_639insT	NP_115969.2:p.Leu214AlafsTer27