Canonical Allele Identifier: CA2635937334

Gene: HES7

Linked Data

• gnomAD v4: 17-8121781-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121784del , CM000679.2:g.8121784del	GRCh38
NC_000017.10:g.8025102del , CM000679.1:g.8025102del	GRCh37
NC_000017.9:g.7965827del	NCBI36
NG_015807.1:g.2135del
NG_015816.1:g.7311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.482del MANE Select	ENSP00000446205.2:p.Pro161LeufsTer?
ENST00000317814.8:c.467del	ENSP00000314774.4:p.Pro156LeufsTer?
ENST00000541682.6:c.482del	ENSP00000446205.2:p.Pro161LeufsTer?
NM_001165967.1:c.482del	NP_001159439.1:p.Pro161LeufsTer?
NM_032580.3:c.467del	NP_115969.2:p.Pro156LeufsTer?
XM_011524038.1:c.587del	XP_011522340.1:p.Pro196LeufsTer?
XM_011524039.1:c.578del	XP_011522341.1:p.Pro193LeufsTer?
XM_011524040.1:c.578del	XP_011522342.1:p.Pro193LeufsTer?
XM_011524041.1:c.569del	XP_011522343.1:p.Pro190LeufsTer?
XM_011524042.1:c.440del	XP_011522344.1:p.Pro147LeufsTer?
XR_934203.1:n.69+1970del
XM_017025232.1:c.587del	XP_016880721.1:p.Pro196LeufsTer?
XM_024451007.1:c.587del	XP_024306775.1:p.Pro196LeufsTer?
NM_001165967.2:c.482del MANE Select	NP_001159439.1:p.Pro161LeufsTer?
NM_032580.4:c.467del	NP_115969.2:p.Pro156LeufsTer?