Canonical Allele Identifier: CA2635937155

Gene: HES7

Linked Data

• gnomAD v4: 17-8121707-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121708del , CM000679.2:g.8121708del	GRCh38
NC_000017.10:g.8025026del , CM000679.1:g.8025026del	GRCh37
NC_000017.9:g.7965751del	NCBI36
NG_015807.1:g.2209del
NG_015816.1:g.7385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.556del MANE Select	ENSP00000446205.2:p.Ser186ProfsTer?
ENST00000317814.8:c.541del	ENSP00000314774.4:p.Ser181ProfsTer?
ENST00000541682.6:c.556del	ENSP00000446205.2:p.Ser186ProfsTer?
NM_001165967.1:c.556del	NP_001159439.1:p.Ser186ProfsTer?
NM_032580.3:c.541del	NP_115969.2:p.Ser181ProfsTer?
XM_011524038.1:c.661del	XP_011522340.1:p.Ser221ProfsTer?
XM_011524039.1:c.652del	XP_011522341.1:p.Ser218ProfsTer?
XM_011524040.1:c.652del	XP_011522342.1:p.Ser218ProfsTer?
XM_011524041.1:c.643del	XP_011522343.1:p.Ser215ProfsTer?
XM_011524042.1:c.514del	XP_011522344.1:p.Ser172ProfsTer?
XR_934203.1:n.69+1894del
XM_017025232.1:c.661del	XP_016880721.1:p.Ser221ProfsTer?
XM_024451007.1:c.661del	XP_024306775.1:p.Ser221ProfsTer?
NM_001165967.2:c.556del MANE Select	NP_001159439.1:p.Ser186ProfsTer?
NM_032580.4:c.541del	NP_115969.2:p.Ser181ProfsTer?