Canonical Allele Identifier: CA2635938600

Gene: HES7

Linked Data

• gnomAD v4: 17-8122006-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122010del , CM000679.2:g.8122010del	GRCh38
NC_000017.10:g.8025328del , CM000679.1:g.8025328del	GRCh37
NC_000017.9:g.7966053del	NCBI36
NG_015807.1:g.1910del
NG_015816.1:g.7086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.257del MANE Select	ENSP00000446205.2:p.Pro86GlnfsTer?
ENST00000317814.8:c.242del	ENSP00000314774.4:p.Pro81GlnfsTer?
ENST00000541682.6:c.257del	ENSP00000446205.2:p.Pro86GlnfsTer?
ENST00000577735.1:c.233del	ENSP00000462491.1:p.Pro78GlnfsTer?
NM_001165967.1:c.257del	NP_001159439.1:p.Pro86GlnfsTer?
NM_032580.3:c.242del	NP_115969.2:p.Pro81GlnfsTer?
XM_011524038.1:c.362del	XP_011522340.1:p.Pro121GlnfsTer?
XM_011524039.1:c.353del	XP_011522341.1:p.Pro118GlnfsTer?
XM_011524040.1:c.353del	XP_011522342.1:p.Pro118GlnfsTer?
XM_011524041.1:c.344del	XP_011522343.1:p.Pro115GlnfsTer?
XM_011524042.1:c.215del	XP_011522344.1:p.Pro72GlnfsTer?
XR_934203.1:n.69+2196del
XM_017025232.1:c.362del	XP_016880721.1:p.Pro121GlnfsTer?
XM_024451007.1:c.362del	XP_024306775.1:p.Pro121GlnfsTer?
NM_001165967.2:c.257del MANE Select	NP_001159439.1:p.Pro86GlnfsTer?
NM_032580.4:c.242del	NP_115969.2:p.Pro81GlnfsTer?