Canonical Allele Identifier: CA775623195

Gene: HES7

Linked Data

• ClinVar Variation Id: 1447965
• ClinVar RCV Id: RCV001980010
• dbSNP Id: rs1406071405
• MyVariant Identifiers: chr17:g.8024974_8024975insGCA (hg19) ; chr17:g.8121656_8121657insGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121661_8121663dup , CM000679.2:g.8121661_8121663dup	GRCh38
NC_000017.10:g.8024979_8024981dup , CM000679.1:g.8024979_8024981dup	GRCh37
NC_000017.9:g.7965704_7965706dup	NCBI36
NG_015807.1:g.2258_2260dup
NG_015816.1:g.7434_7436dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.605_607dup MANE Select	ENSP00000446205.2:p.Leu202_Pro203insLeu
ENST00000317814.8:c.590_592dup	ENSP00000314774.4:p.Leu197_Pro198insLeu
ENST00000541682.6:c.605_607dup	ENSP00000446205.2:p.Leu202_Pro203insLeu
NM_001165967.1:c.605_607dup	NP_001159439.1:p.Leu202_Pro203insLeu
NM_032580.3:c.590_592dup	NP_115969.2:p.Leu197_Pro198insLeu
XM_011524038.1:c.710_712dup	XP_011522340.1:p.Leu237_Pro238insLeu
XM_011524039.1:c.701_703dup	XP_011522341.1:p.Leu234_Pro235insLeu
XM_011524040.1:c.701_703dup	XP_011522342.1:p.Leu234_Pro235insLeu
XM_011524041.1:c.692_694dup	XP_011522343.1:p.Leu231_Pro232insLeu
XM_011524042.1:c.563_565dup	XP_011522344.1:p.Leu188_Pro189insLeu
XR_934203.1:n.69+1847_69+1849dup
XM_017025232.1:c.710_712dup	XP_016880721.1:p.Leu237_Pro238insLeu
XM_024451007.1:c.710_712dup	XP_024306775.1:p.Leu237_Pro238insLeu
NM_001165967.2:c.605_607dup MANE Select	NP_001159439.1:p.Leu202_Pro203insLeu
NM_032580.4:c.590_592dup	NP_115969.2:p.Leu197_Pro198insLeu