Canonical Allele Identifier: CA2635936711

Gene: HES7

Linked Data

• gnomAD v4: 17-8121608-A-ACAGGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121608_8121609insCAGGTGG , CM000679.2:g.8121608_8121609insCAGGTGG	GRCh38
NC_000017.10:g.8024926_8024927insCAGGTGG , CM000679.1:g.8024926_8024927insCAGGTGG	GRCh37
NC_000017.9:g.7965651_7965652insCAGGTGG	NCBI36
NG_015807.1:g.2308_2309insCCACCTG
NG_015816.1:g.7484_7485insCCACCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.655_656insCCACCTG MANE Select	ENSP00000446205.2:p.Leu219ProfsTer29
ENST00000317814.8:c.640_641insCCACCTG	ENSP00000314774.4:p.Leu214ProfsTer?
ENST00000541682.6:c.655_656insCCACCTG	ENSP00000446205.2:p.Leu219ProfsTer29
NM_001165967.1:c.655_656insCCACCTG	NP_001159439.1:p.Leu219ProfsTer29
NM_032580.3:c.640_641insCCACCTG	NP_115969.2:p.Leu214ProfsTer29
XM_011524038.1:c.760_761insCCACCTG	XP_011522340.1:p.Leu254ProfsTer29
XM_011524039.1:c.751_752insCCACCTG	XP_011522341.1:p.Leu251ProfsTer29
XM_011524040.1:c.751_752insCCACCTG	XP_011522342.1:p.Leu251ProfsTer29
XM_011524041.1:c.742_743insCCACCTG	XP_011522343.1:p.Leu248ProfsTer29
XM_011524042.1:c.613_614insCCACCTG	XP_011522344.1:p.Leu205ProfsTer29
XR_934203.1:n.69+1794_69+1795insCAGGTGG
XM_017025232.1:c.760_761insCCACCTG	XP_016880721.1:p.Leu254ProfsTer29
XM_024451007.1:c.760_761insCCACCTG	XP_024306775.1:p.Leu254ProfsTer29
NM_001165967.2:c.655_656insCCACCTG MANE Select	NP_001159439.1:p.Leu219ProfsTer29
NM_032580.4:c.640_641insCCACCTG	NP_115969.2:p.Leu214ProfsTer29