Canonical Allele Identifier: CA624724234

Gene: HES7

Linked Data

• dbSNP Id: rs1414721542
• gnomAD v2: 17-8024928-CG-C
• gnomAD v4: 17-8121610-CG-C
• MyVariant Identifiers: chr17:g.8024929del (hg19) ; chr17:g.8121611del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121614del , CM000679.2:g.8121614del	GRCh38
NC_000017.10:g.8024932del , CM000679.1:g.8024932del	GRCh37
NC_000017.9:g.7965657del	NCBI36
NG_015807.1:g.2306del
NG_015816.1:g.7482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.653del MANE Select	ENSP00000446205.2:p.Pro218ArgfsTer?
ENST00000317814.8:c.638del	ENSP00000314774.4:p.Pro213ArgfsTer?
ENST00000541682.6:c.653del	ENSP00000446205.2:p.Pro218ArgfsTer?
NM_001165967.1:c.653del	NP_001159439.1:p.Pro218ArgfsTer?
NM_032580.3:c.638del	NP_115969.2:p.Pro213ArgfsTer?
XM_011524038.1:c.758del	XP_011522340.1:p.Pro253ArgfsTer?
XM_011524039.1:c.749del	XP_011522341.1:p.Pro250ArgfsTer?
XM_011524040.1:c.749del	XP_011522342.1:p.Pro250ArgfsTer?
XM_011524041.1:c.740del	XP_011522343.1:p.Pro247ArgfsTer?
XM_011524042.1:c.611del	XP_011522344.1:p.Pro204ArgfsTer?
XR_934203.1:n.69+1800del
XM_017025232.1:c.758del	XP_016880721.1:p.Pro253ArgfsTer?
XM_024451007.1:c.758del	XP_024306775.1:p.Pro253ArgfsTer?
NM_001165967.2:c.653del MANE Select	NP_001159439.1:p.Pro218ArgfsTer?
NM_032580.4:c.638del	NP_115969.2:p.Pro213ArgfsTer?