Canonical Allele Identifier: CA2635936638

Gene: HES7

Linked Data

• gnomAD v4: 17-8121589-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121592del , CM000679.2:g.8121592del	GRCh38
NC_000017.10:g.8024910del , CM000679.1:g.8024910del	GRCh37
NC_000017.9:g.7965635del	NCBI36
NG_015807.1:g.2327del
NG_015816.1:g.7503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.674del MANE Select	ENSP00000446205.2:p.Phe225SerfsTer?
ENST00000317814.8:c.659del	ENSP00000314774.4:p.Phe220SerfsTer?
ENST00000541682.6:c.674del	ENSP00000446205.2:p.Phe225SerfsTer?
NM_001165967.1:c.674del	NP_001159439.1:p.Phe225SerfsTer?
NM_032580.3:c.659del	NP_115969.2:p.Phe220SerfsTer?
XM_011524038.1:c.779del	XP_011522340.1:p.Phe260SerfsTer?
XM_011524039.1:c.770del	XP_011522341.1:p.Phe257SerfsTer?
XM_011524040.1:c.770del	XP_011522342.1:p.Phe257SerfsTer?
XM_011524041.1:c.761del	XP_011522343.1:p.Phe254SerfsTer?
XM_011524042.1:c.632del	XP_011522344.1:p.Phe211SerfsTer?
XR_934203.1:n.69+1778del
XM_017025232.1:c.779del	XP_016880721.1:p.Phe260SerfsTer?
XM_024451007.1:c.779del	XP_024306775.1:p.Phe260SerfsTer?
NM_001165967.2:c.674del MANE Select	NP_001159439.1:p.Phe225SerfsTer?
NM_032580.4:c.659del	NP_115969.2:p.Phe220SerfsTer?