Canonical Allele Identifier: CA2246159652

Gene: HES7

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121531_8121544delinsTACCCCACCCCTAG , CM000679.2:g.8121531_8121544delinsTACCCCACCCCTAG	GRCh38
NC_000017.10:g.8024849_8024862delinsTACCCCACCCCTAG , CM000679.1:g.8024849_8024862delinsTACCCCACCCCTAG	GRCh37
NC_000017.9:g.7965574_7965587delinsTACCCCACCCCTAG	NCBI36
NG_015807.1:g.2373_2386delinsCTAGGGGTGGGGTA
NG_015816.1:g.7549_7562delinsCTAGGGGTGGGGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.*27_*40delinsCTAGGGGTGGGGTA MANE Select	ENSP00000446205.2:n.*27_*40delinsCTAGGGGTGGGGTA
ENST00000541682.6:c.720_733delinsCTAGGGGTGGGGTA	ENSP00000446205.2:n.720_733delinsCTAGGGGTGGGGTA
NM_001165967.1:c.*27_*40delinsCTAGGGGTGGGGTA	NP_001159439.1:n.*27_*40delinsCTAGGGGTGGGGTA
NM_032580.3:c.*27_*40delinsCTAGGGGTGGGGTA	NP_115969.2:n.*27_*40delinsCTAGGGGTGGGGTA
XM_011524038.1:c.*27_*40delinsCTAGGGGTGGGGTA	XP_011522340.1:n.*27_*40delinsCTAGGGGTGGGGTA
XM_011524039.1:c.*27_*40delinsCTAGGGGTGGGGTA	XP_011522341.1:n.*27_*40delinsCTAGGGGTGGGGTA
XM_011524040.1:c.*27_*40delinsCTAGGGGTGGGGTA	XP_011522342.1:n.*27_*40delinsCTAGGGGTGGGGTA
XM_011524041.1:c.*27_*40delinsCTAGGGGTGGGGTA	XP_011522343.1:n.*27_*40delinsCTAGGGGTGGGGTA
XM_011524042.1:c.*27_*40delinsCTAGGGGTGGGGTA	XP_011522344.1:n.*27_*40delinsCTAGGGGTGGGGTA
XR_934203.1:n.69+1717_69+1730delinsTACCCCACCCCTAG
XM_017025232.1:c.*27_*40delinsCTAGGGGTGGGGTA	XP_016880721.1:n.*27_*40delinsCTAGGGGTGGGGTA
XM_024451007.1:c.*27_*40delinsCTAGGGGTGGGGTA	XP_024306775.1:n.*27_*40delinsCTAGGGGTGGGGTA
NM_001165967.2:c.*27_*40delinsCTAGGGGTGGGGTA MANE Select	NP_001159439.1:n.*27_*40delinsCTAGGGGTGGGGTA
NM_032580.4:c.*27_*40delinsCTAGGGGTGGGGTA	NP_115969.2:n.*27_*40delinsCTAGGGGTGGGGTA