Canonical Allele Identifier: CA2635938457

Gene: HES7

Linked Data

• gnomAD v4: 17-8121970-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121972del , CM000679.2:g.8121972del	GRCh38
NC_000017.10:g.8025290del , CM000679.1:g.8025290del	GRCh37
NC_000017.9:g.7966015del	NCBI36
NG_015807.1:g.1946del
NG_015816.1:g.7122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.293del MANE Select	ENSP00000446205.2:p.Leu98CysfsTer?
ENST00000317814.8:c.278del	ENSP00000314774.4:p.Leu93CysfsTer?
ENST00000541682.6:c.293del	ENSP00000446205.2:p.Leu98CysfsTer?
ENST00000577735.1:c.269del	ENSP00000462491.1:p.Leu90CysfsTer?
NM_001165967.1:c.293del	NP_001159439.1:p.Leu98CysfsTer?
NM_032580.3:c.278del	NP_115969.2:p.Leu93CysfsTer?
XM_011524038.1:c.398del	XP_011522340.1:p.Leu133CysfsTer?
XM_011524039.1:c.389del	XP_011522341.1:p.Leu130CysfsTer?
XM_011524040.1:c.389del	XP_011522342.1:p.Leu130CysfsTer?
XM_011524041.1:c.380del	XP_011522343.1:p.Leu127CysfsTer?
XM_011524042.1:c.251del	XP_011522344.1:p.Leu84CysfsTer?
XR_934203.1:n.69+2158del
XM_017025232.1:c.398del	XP_016880721.1:p.Leu133CysfsTer?
XM_024451007.1:c.398del	XP_024306775.1:p.Leu133CysfsTer?
NM_001165967.2:c.293del MANE Select	NP_001159439.1:p.Leu98CysfsTer?
NM_032580.4:c.278del	NP_115969.2:p.Leu93CysfsTer?