Canonical Allele Identifier: CA2635936740

Gene: HES7

Linked Data

• gnomAD v4: 17-8121613-GGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121614_8121617del , CM000679.2:g.8121614_8121617del	GRCh38
NC_000017.10:g.8024932_8024935del , CM000679.1:g.8024932_8024935del	GRCh37
NC_000017.9:g.7965657_7965660del	NCBI36
NG_015807.1:g.2300_2303del
NG_015816.1:g.7476_7479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.647_650del MANE Select	ENSP00000446205.2:p.Lys216ThrfsTer?
ENST00000317814.8:c.632_635del	ENSP00000314774.4:p.Lys211ThrfsTer?
ENST00000541682.6:c.647_650del	ENSP00000446205.2:p.Lys216ThrfsTer?
NM_001165967.1:c.647_650del	NP_001159439.1:p.Lys216ThrfsTer?
NM_032580.3:c.632_635del	NP_115969.2:p.Lys211ThrfsTer?
XM_011524038.1:c.752_755del	XP_011522340.1:p.Lys251ThrfsTer?
XM_011524039.1:c.743_746del	XP_011522341.1:p.Lys248ThrfsTer?
XM_011524040.1:c.743_746del	XP_011522342.1:p.Lys248ThrfsTer?
XM_011524041.1:c.734_737del	XP_011522343.1:p.Lys245ThrfsTer?
XM_011524042.1:c.605_608del	XP_011522344.1:p.Lys202ThrfsTer?
XR_934203.1:n.69+1800_69+1803del
XM_017025232.1:c.752_755del	XP_016880721.1:p.Lys251ThrfsTer?
XM_024451007.1:c.752_755del	XP_024306775.1:p.Lys251ThrfsTer?
NM_001165967.2:c.647_650del MANE Select	NP_001159439.1:p.Lys216ThrfsTer?
NM_032580.4:c.632_635del	NP_115969.2:p.Lys211ThrfsTer?