Canonical Allele Identifier: CA2246161066

Gene: HES7

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122080_8122091delinsCGGCAGGGGTGA , CM000679.2:g.8122080_8122091delinsCGGCAGGGGTGA	GRCh38
NC_000017.10:g.8025398_8025409delinsCGGCAGGGGTGA , CM000679.1:g.8025398_8025409delinsCGGCAGGGGTGA	GRCh37
NC_000017.9:g.7966123_7966134delinsCGGCAGGGGTGA	NCBI36
NG_015807.1:g.1826_1837delinsTCACCCCTGCCG
NG_015816.1:g.7002_7013delinsTCACCCCTGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.227-54_227-43delinsTCACCCCTGCCG MANE Select	ENSP00000446205.2:n.227-54_227-43delinsTCACCCCTGCCG
ENST00000317814.8:c.227-69_227-58delinsTCACCCCTGCCG	ENSP00000314774.4:n.227-69_227-58delinsTCACCCCTGCCG
ENST00000541682.6:c.227-54_227-43delinsTCACCCCTGCCG	ENSP00000446205.2:n.227-54_227-43delinsTCACCCCTGCCG
ENST00000577735.1:c.203-54_203-43delinsTCACCCCTGCCG	ENSP00000462491.1:n.203-54_203-43delinsTCACCCCTGCCG
NM_001165967.1:c.227-54_227-43delinsTCACCCCTGCCG	NP_001159439.1:n.227-54_227-43delinsTCACCCCTGCCG
NM_032580.3:c.227-69_227-58delinsTCACCCCTGCCG	NP_115969.2:n.227-69_227-58delinsTCACCCCTGCCG
XM_011524038.1:c.332-54_332-43delinsTCACCCCTGCCG	XP_011522340.1:n.332-54_332-43delinsTCACCCCTGCCG
XM_011524039.1:c.323-54_323-43delinsTCACCCCTGCCG	XP_011522341.1:n.323-54_323-43delinsTCACCCCTGCCG
XM_011524040.1:c.323-54_323-43delinsTCACCCCTGCCG	XP_011522342.1:n.323-54_323-43delinsTCACCCCTGCCG
XM_011524041.1:c.314-54_314-43delinsTCACCCCTGCCG	XP_011522343.1:n.314-54_314-43delinsTCACCCCTGCCG
XM_011524042.1:c.185-54_185-43delinsTCACCCCTGCCG	XP_011522344.1:n.185-54_185-43delinsTCACCCCTGCCG
XR_934203.1:n.69+2266_69+2277delinsCGGCAGGGGTGA
XM_017025232.1:c.332-54_332-43delinsTCACCCCTGCCG	XP_016880721.1:n.332-54_332-43delinsTCACCCCTGCCG
XM_024451007.1:c.332-54_332-43delinsTCACCCCTGCCG	XP_024306775.1:n.332-54_332-43delinsTCACCCCTGCCG
NM_001165967.2:c.227-54_227-43delinsTCACCCCTGCCG MANE Select	NP_001159439.1:n.227-54_227-43delinsTCACCCCTGCCG
NM_032580.4:c.227-69_227-58delinsTCACCCCTGCCG	NP_115969.2:n.227-69_227-58delinsTCACCCCTGCCG