Canonical Allele Identifier: CA2246159948

Gene: HES7

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121651_8121678delinsGCGGCGGCAGCAGTCCGGTGAGGGGCGC , CM000679.2:g.8121651_8121678delinsGCGGCGGCAGCAGTCCGGTGAGGGGCGC	GRCh38
NC_000017.10:g.8024969_8024996delinsGCGGCGGCAGCAGTCCGGTGAGGGGCGC , CM000679.1:g.8024969_8024996delinsGCGGCGGCAGCAGTCCGGTGAGGGGCGC	GRCh37
NC_000017.9:g.7965694_7965721delinsGCGGCGGCAGCAGTCCGGTGAGGGGCGC	NCBI36
NG_015807.1:g.2239_2266delinsGCGCCCCTCACCGGACTGCTGCCGCCGC
NG_015816.1:g.7415_7442delinsGCGCCCCTCACCGGACTGCTGCCGCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.586_613delinsGCGCCCCTCACCGGACTGCTGCCGCCGC MANE Select	ENSP00000446205.2:p.Ala196=
ENST00000317814.8:c.571_598delinsGCGCCCCTCACCGGACTGCTGCCGCCGC	ENSP00000314774.4:p.Ala191=
ENST00000541682.6:c.586_613delinsGCGCCCCTCACCGGACTGCTGCCGCCGC	ENSP00000446205.2:p.Ala196=
NM_001165967.1:c.586_613delinsGCGCCCCTCACCGGACTGCTGCCGCCGC	NP_001159439.1:p.Ala196=
NM_032580.3:c.571_598delinsGCGCCCCTCACCGGACTGCTGCCGCCGC	NP_115969.2:p.Ala191=
XM_011524038.1:c.691_718delinsGCGCCCCTCACCGGACTGCTGCCGCCGC	XP_011522340.1:p.Ala231=
XM_011524039.1:c.682_709delinsGCGCCCCTCACCGGACTGCTGCCGCCGC	XP_011522341.1:p.Ala228=
XM_011524040.1:c.682_709delinsGCGCCCCTCACCGGACTGCTGCCGCCGC	XP_011522342.1:p.Ala228=
XM_011524041.1:c.673_700delinsGCGCCCCTCACCGGACTGCTGCCGCCGC	XP_011522343.1:p.Ala225=
XM_011524042.1:c.544_571delinsGCGCCCCTCACCGGACTGCTGCCGCCGC	XP_011522344.1:p.Ala182=
XR_934203.1:n.69+1837_69+1864delinsGCGGCGGCAGCAGTCCGGTGAGGGGCGC
XM_017025232.1:c.691_718delinsGCGCCCCTCACCGGACTGCTGCCGCCGC	XP_016880721.1:p.Ala231=
XM_024451007.1:c.691_718delinsGCGCCCCTCACCGGACTGCTGCCGCCGC	XP_024306775.1:p.Ala231=
NM_001165967.2:c.586_613delinsGCGCCCCTCACCGGACTGCTGCCGCCGC MANE Select	NP_001159439.1:p.Ala196=
NM_032580.4:c.571_598delinsGCGCCCCTCACCGGACTGCTGCCGCCGC	NP_115969.2:p.Ala191=