Canonical Allele Identifier: CA2576161671

Gene: HES7

Linked Data

• gnomAD v4: 17-8121742-AGGGTGGCCCTGGTGCACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121746_8121763del , CM000679.2:g.8121746_8121763del	GRCh38
NC_000017.10:g.8025064_8025081del , CM000679.1:g.8025064_8025081del	GRCh37
NC_000017.9:g.7965789_7965806del	NCBI36
NG_015807.1:g.2157_2174del
NG_015816.1:g.7333_7350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.504_521del MANE Select	ENSP00000446205.2:p.Val169_Pro174del
ENST00000317814.8:c.489_506del	ENSP00000314774.4:p.Val164_Pro169del
ENST00000541682.6:c.504_521del	ENSP00000446205.2:p.Val169_Pro174del
NM_001165967.1:c.504_521del	NP_001159439.1:p.Val169_Pro174del
NM_032580.3:c.489_506del	NP_115969.2:p.Val164_Pro169del
XM_011524038.1:c.609_626del	XP_011522340.1:p.Val204_Pro209del
XM_011524039.1:c.600_617del	XP_011522341.1:p.Val201_Pro206del
XM_011524040.1:c.600_617del	XP_011522342.1:p.Val201_Pro206del
XM_011524041.1:c.591_608del	XP_011522343.1:p.Val198_Pro203del
XM_011524042.1:c.462_479del	XP_011522344.1:p.Val155_Pro160del
XR_934203.1:n.69+1932_69+1949del
XM_017025232.1:c.609_626del	XP_016880721.1:p.Val204_Pro209del
XM_024451007.1:c.609_626del	XP_024306775.1:p.Val204_Pro209del
NM_001165967.2:c.504_521del MANE Select	NP_001159439.1:p.Val169_Pro174del
NM_032580.4:c.489_506del	NP_115969.2:p.Val164_Pro169del