Canonical Allele Identifier: CA2635937272

Gene: HES7

Linked Data

• gnomAD v4: 17-8121770-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121772del , CM000679.2:g.8121772del	GRCh38
NC_000017.10:g.8025090del , CM000679.1:g.8025090del	GRCh37
NC_000017.9:g.7965815del	NCBI36
NG_015807.1:g.2146del
NG_015816.1:g.7322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.493del MANE Select	ENSP00000446205.2:p.Gln165SerfsTer?
ENST00000317814.8:c.478del	ENSP00000314774.4:p.Gln160SerfsTer?
ENST00000541682.6:c.493del	ENSP00000446205.2:p.Gln165SerfsTer?
NM_001165967.1:c.493del	NP_001159439.1:p.Gln165SerfsTer?
NM_032580.3:c.478del	NP_115969.2:p.Gln160SerfsTer?
XM_011524038.1:c.598del	XP_011522340.1:p.Gln200SerfsTer?
XM_011524039.1:c.589del	XP_011522341.1:p.Gln197SerfsTer?
XM_011524040.1:c.589del	XP_011522342.1:p.Gln197SerfsTer?
XM_011524041.1:c.580del	XP_011522343.1:p.Gln194SerfsTer?
XM_011524042.1:c.451del	XP_011522344.1:p.Gln151SerfsTer?
XR_934203.1:n.69+1958del
XM_017025232.1:c.598del	XP_016880721.1:p.Gln200SerfsTer?
XM_024451007.1:c.598del	XP_024306775.1:p.Gln200SerfsTer?
NM_001165967.2:c.493del MANE Select	NP_001159439.1:p.Gln165SerfsTer?
NM_032580.4:c.478del	NP_115969.2:p.Gln160SerfsTer?