Canonical Allele Identifier: CA2635936693

Gene: HES7

Linked Data

• gnomAD v4: 17-8121605-G-GCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121605_8121606insCT , CM000679.2:g.8121605_8121606insCT	GRCh38
NC_000017.10:g.8024923_8024924insCT , CM000679.1:g.8024923_8024924insCT	GRCh37
NC_000017.9:g.7965648_7965649insCT	NCBI36
NG_015807.1:g.2311_2312insAG
NG_015816.1:g.7487_7488insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.658_659insAG MANE Select	ENSP00000446205.2:p.Pro220GlnfsTer?
ENST00000317814.8:c.643_644insAG	ENSP00000314774.4:p.Pro215GlnfsTer?
ENST00000541682.6:c.658_659insAG	ENSP00000446205.2:p.Pro220GlnfsTer?
NM_001165967.1:c.658_659insAG	NP_001159439.1:p.Pro220GlnfsTer?
NM_032580.3:c.643_644insAG	NP_115969.2:p.Pro215GlnfsTer?
XM_011524038.1:c.763_764insAG	XP_011522340.1:p.Pro255GlnfsTer?
XM_011524039.1:c.754_755insAG	XP_011522341.1:p.Pro252GlnfsTer?
XM_011524040.1:c.754_755insAG	XP_011522342.1:p.Pro252GlnfsTer?
XM_011524041.1:c.745_746insAG	XP_011522343.1:p.Pro249GlnfsTer?
XM_011524042.1:c.616_617insAG	XP_011522344.1:p.Pro206GlnfsTer?
XR_934203.1:n.69+1791_69+1792insCT
XM_017025232.1:c.763_764insAG	XP_016880721.1:p.Pro255GlnfsTer?
XM_024451007.1:c.763_764insAG	XP_024306775.1:p.Pro255GlnfsTer?
NM_001165967.2:c.658_659insAG MANE Select	NP_001159439.1:p.Pro220GlnfsTer?
NM_032580.4:c.643_644insAG	NP_115969.2:p.Pro215GlnfsTer?