Canonical Allele Identifier: CA624724232

Gene: HES7

Linked Data

• dbSNP Id: rs1568013801
• gnomAD v2: 17-8024919-CG-C
• gnomAD v4: 17-8121601-CG-C
• MyVariant Identifiers: chr17:g.8024920del (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.662del MANE Select	ENSP00000446205.2:p.Pro221ArgfsTer?
ENST00000317814.8:c.647del	ENSP00000314774.4:p.Pro216ArgfsTer?
ENST00000541682.6:c.662del	ENSP00000446205.2:p.Pro221ArgfsTer?
NM_001165967.1:c.662del	NP_001159439.1:p.Pro221ArgfsTer?
NM_032580.3:c.647del	NP_115969.2:p.Pro216ArgfsTer?
XM_011524038.1:c.767del	XP_011522340.1:p.Pro256ArgfsTer?
XM_011524039.1:c.758del	XP_011522341.1:p.Pro253ArgfsTer?
XM_011524040.1:c.758del	XP_011522342.1:p.Pro253ArgfsTer?
XM_011524041.1:c.749del	XP_011522343.1:p.Pro250ArgfsTer?
XM_011524042.1:c.620del	XP_011522344.1:p.Pro207ArgfsTer?
XR_934203.1:n.69+1792del
XM_017025232.1:c.767del	XP_016880721.1:p.Pro256ArgfsTer?
XM_024451007.1:c.767del	XP_024306775.1:p.Pro256ArgfsTer?
NM_001165967.2:c.662del MANE Select	NP_001159439.1:p.Pro221ArgfsTer?
NM_032580.4:c.647del	NP_115969.2:p.Pro216ArgfsTer?