Canonical Allele Identifier: CA2635938654

Gene: HES7

Linked Data

• gnomAD v4: 17-8122019-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122023del , CM000679.2:g.8122023del	GRCh38
NC_000017.10:g.8025341del , CM000679.1:g.8025341del	GRCh37
NC_000017.9:g.7966066del	NCBI36
NG_015807.1:g.1897del
NG_015816.1:g.7073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.244del MANE Select	ENSP00000446205.2:p.Val82PhefsTer?
ENST00000317814.8:c.229del
ENST00000541682.6:c.244del	ENSP00000446205.2:p.Val82PhefsTer?
ENST00000577735.1:c.220del	ENSP00000462491.1:p.Val74PhefsTer?
NM_001165967.1:c.244del	NP_001159439.1:p.Val82PhefsTer?
NM_032580.3:c.229del
XM_011524038.1:c.349del	XP_011522340.1:p.Val117PhefsTer?
XM_011524039.1:c.340del	XP_011522341.1:p.Val114PhefsTer?
XM_011524040.1:c.340del	XP_011522342.1:p.Val114PhefsTer?
XM_011524041.1:c.331del	XP_011522343.1:p.Val111PhefsTer?
XM_011524042.1:c.202del	XP_011522344.1:p.Val68PhefsTer?
XR_934203.1:n.69+2209del
XM_017025232.1:c.349del	XP_016880721.1:p.Val117PhefsTer?
XM_024451007.1:c.349del	XP_024306775.1:p.Val117PhefsTer?
NM_001165967.2:c.244del MANE Select	NP_001159439.1:p.Val82PhefsTer?
NM_032580.4:c.229del