Canonical Allele Identifier: CA2635936759

Gene: HES7

Linked Data

• gnomAD v4: 17-8121616-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121618del , CM000679.2:g.8121618del	GRCh38
NC_000017.10:g.8024936del , CM000679.1:g.8024936del	GRCh37
NC_000017.9:g.7965661del	NCBI36
NG_015807.1:g.2300del
NG_015816.1:g.7476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.647del MANE Select	ENSP00000446205.2:p.Lys216ArgfsTer?
ENST00000317814.8:c.632del	ENSP00000314774.4:p.Lys211ArgfsTer?
ENST00000541682.6:c.647del	ENSP00000446205.2:p.Lys216ArgfsTer?
NM_001165967.1:c.647del	NP_001159439.1:p.Lys216ArgfsTer?
NM_032580.3:c.632del	NP_115969.2:p.Lys211ArgfsTer?
XM_011524038.1:c.752del	XP_011522340.1:p.Lys251ArgfsTer?
XM_011524039.1:c.743del	XP_011522341.1:p.Lys248ArgfsTer?
XM_011524040.1:c.743del	XP_011522342.1:p.Lys248ArgfsTer?
XM_011524041.1:c.734del	XP_011522343.1:p.Lys245ArgfsTer?
XM_011524042.1:c.605del	XP_011522344.1:p.Lys202ArgfsTer?
XR_934203.1:n.69+1804del
XM_017025232.1:c.752del	XP_016880721.1:p.Lys251ArgfsTer?
XM_024451007.1:c.752del	XP_024306775.1:p.Lys251ArgfsTer?
NM_001165967.2:c.647del MANE Select	NP_001159439.1:p.Lys216ArgfsTer?
NM_032580.4:c.632del	NP_115969.2:p.Lys211ArgfsTer?