Canonical Allele Identifier: CA497955483

Gene: HES7

Linked Data

• dbSNP Id: rs1205475048
• gnomAD v3: 17-8122104-G-GGCGCA
• gnomAD v4: 17-8122104-G-GGCGCA
• MyVariant Identifiers: chr17:g.8025422_8025423insGCGCA (hg19) ; chr17:g.8122104_8122105insGCGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122106_8122110dup , CM000679.2:g.8122106_8122110dup	GRCh38
NC_000017.10:g.8025424_8025428dup , CM000679.1:g.8025424_8025428dup	GRCh37
NC_000017.9:g.7966149_7966153dup	NCBI36
NG_015807.1:g.1808_1812dup
NG_015816.1:g.6984_6988dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.227-72_227-68dup MANE Select	ENSP00000446205.2:n.227-72_227-68dup
ENST00000317814.8:c.227-87_227-83dup	ENSP00000314774.4:n.227-87_227-83dup
ENST00000541682.6:c.227-72_227-68dup	ENSP00000446205.2:n.227-72_227-68dup
ENST00000577735.1:c.203-72_203-68dup	ENSP00000462491.1:n.203-72_203-68dup
NM_001165967.1:c.227-72_227-68dup	NP_001159439.1:n.227-72_227-68dup
NM_032580.3:c.227-87_227-83dup	NP_115969.2:n.227-87_227-83dup
XM_011524038.1:c.332-72_332-68dup	XP_011522340.1:n.332-72_332-68dup
XM_011524039.1:c.323-72_323-68dup	XP_011522341.1:n.323-72_323-68dup
XM_011524040.1:c.323-72_323-68dup	XP_011522342.1:n.323-72_323-68dup
XM_011524041.1:c.314-72_314-68dup	XP_011522343.1:n.314-72_314-68dup
XM_011524042.1:c.185-72_185-68dup	XP_011522344.1:n.185-72_185-68dup
XR_934203.1:n.69+2292_69+2296dup
XM_017025232.1:c.332-72_332-68dup	XP_016880721.1:n.332-72_332-68dup
XM_024451007.1:c.332-72_332-68dup	XP_024306775.1:n.332-72_332-68dup
NM_001165967.2:c.227-72_227-68dup MANE Select	NP_001159439.1:n.227-72_227-68dup
NM_032580.4:c.227-87_227-83dup	NP_115969.2:n.227-87_227-83dup