Canonical Allele Identifier: CA2741516672

Gene: HES7

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122004_8122005insGACCTCCCCCGGGACCTTCCTGACGCGTTCGACCGAGGCGCTGACGGCCGGCCTCTACGAGGGGCTTCCCGCCAGGTTCCTCGAG , CM000679.2:g.8122004_8122005insGACCTCCCCCGGGACCTTCCTGACGCGTTCGACCGAGGCGCTGACGGCCGGCCTCTACGAGGGGCTTCCCGCCAGGTTCCTCGAG	GRCh38
NC_000017.10:g.8025322_8025323insGACCTCCCCCGGGACCTTCCTGACGCGTTCGACCGAGGCGCTGACGGCCGGCCTCTACGAGGGGCTTCCCGCCAGGTTCCTCGAG , CM000679.1:g.8025322_8025323insGACCTCCCCCGGGACCTTCCTGACGCGTTCGACCGAGGCGCTGACGGCCGGCCTCTACGAGGGGCTTCCCGCCAGGTTCCTCGAG	GRCh37
NC_000017.9:g.7966047_7966048insGACCTCCCCCGGGACCTTCCTGACGCGTTCGACCGAGGCGCTGACGGCCGGCCTCTACGAGGGGCTTCCCGCCAGGTTCCTCGAG	NCBI36
NG_015807.1:g.1912_1913insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC
NG_015816.1:g.7088_7089insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.259_260insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC MANE Select	ENSP00000446205.2:p.Val87AlafsTer?
ENST00000317814.8:c.244_245insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	ENSP00000314774.4:p.Val82AlafsTer?
ENST00000541682.6:c.259_260insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	ENSP00000446205.2:p.Val87AlafsTer?
ENST00000577735.1:c.235_236insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	ENSP00000462491.1:p.Val79AlafsTer?
NM_001165967.1:c.259_260insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	NP_001159439.1:p.Val87AlafsTer?
NM_032580.3:c.244_245insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	NP_115969.2:p.Val82AlafsTer?
XM_011524038.1:c.364_365insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	XP_011522340.1:p.Val122AlafsTer?
XM_011524039.1:c.355_356insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	XP_011522341.1:p.Val119AlafsTer?
XM_011524040.1:c.355_356insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	XP_011522342.1:p.Val119AlafsTer?
XM_011524041.1:c.346_347insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	XP_011522343.1:p.Val116AlafsTer?
XM_011524042.1:c.217_218insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	XP_011522344.1:p.Val73AlafsTer?
XR_934203.1:n.69+2190_69+2191insGACCTCCCCCGGGACCTTCCTGACGCGTTCGACCGAGGCGCTGACGGCCGGCCTCTACGAGGGGCTTCCCGCCAGGTTCCTCGAG
XM_017025232.1:c.364_365insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	XP_016880721.1:p.Val122AlafsTer?
XM_024451007.1:c.364_365insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	XP_024306775.1:p.Val122AlafsTer?
NM_001165967.2:c.259_260insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC MANE Select	NP_001159439.1:p.Val87AlafsTer?
NM_032580.4:c.244_245insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC	NP_115969.2:p.Val82AlafsTer?