Canonical Allele Identifier: CA624724235

Gene: HES7

Linked Data

• dbSNP Id: rs1311537269
• gnomAD v2: 17-8024936-TG-T
• gnomAD v4: 17-8121618-TG-T
• MyVariant Identifiers: chr17:g.8024937del (hg19) ; chr17:g.8121619del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121621del , CM000679.2:g.8121621del	GRCh38
NC_000017.10:g.8024939del , CM000679.1:g.8024939del	GRCh37
NC_000017.9:g.7965664del	NCBI36
NG_015807.1:g.2298del
NG_015816.1:g.7474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.645del MANE Select	ENSP00000446205.2:p.Lys216ArgfsTer?
ENST00000317814.8:c.630del	ENSP00000314774.4:p.Lys211ArgfsTer?
ENST00000541682.6:c.645del	ENSP00000446205.2:p.Lys216ArgfsTer?
NM_001165967.1:c.645del	NP_001159439.1:p.Lys216ArgfsTer?
NM_032580.3:c.630del	NP_115969.2:p.Lys211ArgfsTer?
XM_011524038.1:c.750del	XP_011522340.1:p.Lys251ArgfsTer?
XM_011524039.1:c.741del	XP_011522341.1:p.Lys248ArgfsTer?
XM_011524040.1:c.741del	XP_011522342.1:p.Lys248ArgfsTer?
XM_011524041.1:c.732del	XP_011522343.1:p.Lys245ArgfsTer?
XM_011524042.1:c.603del	XP_011522344.1:p.Lys202ArgfsTer?
XR_934203.1:n.69+1807del
XM_017025232.1:c.750del	XP_016880721.1:p.Lys251ArgfsTer?
XM_024451007.1:c.750del	XP_024306775.1:p.Lys251ArgfsTer?
NM_001165967.2:c.645del MANE Select	NP_001159439.1:p.Lys216ArgfsTer?
NM_032580.4:c.630del	NP_115969.2:p.Lys211ArgfsTer?