Canonical Allele Identifier: CA2635936668

Gene: HES7

Linked Data

• gnomAD v4: 17-8121599-GGCGGGGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121606_8121614del , CM000679.2:g.8121606_8121614del	GRCh38
NC_000017.10:g.8024924_8024932del , CM000679.1:g.8024924_8024932del	GRCh37
NC_000017.9:g.7965649_7965657del	NCBI36
NG_015807.1:g.2309_2317del
NG_015816.1:g.7485_7493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.656_664del MANE Select	ENSP00000446205.2:p.Leu219_Pro221del
ENST00000317814.8:c.641_649del	ENSP00000314774.4:p.Leu214_Pro216del
ENST00000541682.6:c.656_664del	ENSP00000446205.2:p.Leu219_Pro221del
NM_001165967.1:c.656_664del	NP_001159439.1:p.Leu219_Pro221del
NM_032580.3:c.641_649del	NP_115969.2:p.Leu214_Pro216del
XM_011524038.1:c.761_769del	XP_011522340.1:p.Leu254_Pro256del
XM_011524039.1:c.752_760del	XP_011522341.1:p.Leu251_Pro253del
XM_011524040.1:c.752_760del	XP_011522342.1:p.Leu251_Pro253del
XM_011524041.1:c.743_751del	XP_011522343.1:p.Leu248_Pro250del
XM_011524042.1:c.614_622del	XP_011522344.1:p.Leu205_Pro207del
XR_934203.1:n.69+1792_69+1800del
XM_017025232.1:c.761_769del	XP_016880721.1:p.Leu254_Pro256del
XM_024451007.1:c.761_769del	XP_024306775.1:p.Leu254_Pro256del
NM_001165967.2:c.656_664del MANE Select	NP_001159439.1:p.Leu219_Pro221del
NM_032580.4:c.641_649del	NP_115969.2:p.Leu214_Pro216del