Canonical Allele Identifier: CA2635936918

Gene: HES7

Linked Data

• gnomAD v4: 17-8121649-T-TGGCGGCGGCAGCAGTCCGGTGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121654_8121677dup , CM000679.2:g.8121654_8121677dup	GRCh38
NC_000017.10:g.8024972_8024995dup , CM000679.1:g.8024972_8024995dup	GRCh37
NC_000017.9:g.7965697_7965720dup	NCBI36
NG_015807.1:g.2244_2267dup
NG_015816.1:g.7420_7443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.591_614dup MANE Select	ENSP00000446205.2:p.Pro205_Pro206insLeuThrGlyLeuLeuProProPro
ENST00000317814.8:c.576_599dup	ENSP00000314774.4:p.Pro200_Pro201insLeuThrGlyLeuLeuProProPro
ENST00000541682.6:c.591_614dup	ENSP00000446205.2:p.Pro205_Pro206insLeuThrGlyLeuLeuProProPro
NM_001165967.1:c.591_614dup	NP_001159439.1:p.Pro205_Pro206insLeuThrGlyLeuLeuProProPro
NM_032580.3:c.576_599dup	NP_115969.2:p.Pro200_Pro201insLeuThrGlyLeuLeuProProPro
XM_011524038.1:c.696_719dup	XP_011522340.1:p.Pro240_Pro241insLeuThrGlyLeuLeuProProPro
XM_011524039.1:c.687_710dup	XP_011522341.1:p.Pro237_Pro238insLeuThrGlyLeuLeuProProPro
XM_011524040.1:c.687_710dup	XP_011522342.1:p.Pro237_Pro238insLeuThrGlyLeuLeuProProPro
XM_011524041.1:c.678_701dup	XP_011522343.1:p.Pro234_Pro235insLeuThrGlyLeuLeuProProPro
XM_011524042.1:c.549_572dup	XP_011522344.1:p.Pro191_Pro192insLeuThrGlyLeuLeuProProPro
XR_934203.1:n.69+1840_69+1863dup
XM_017025232.1:c.696_719dup	XP_016880721.1:p.Pro240_Pro241insLeuThrGlyLeuLeuProProPro
XM_024451007.1:c.696_719dup	XP_024306775.1:p.Pro240_Pro241insLeuThrGlyLeuLeuProProPro
NM_001165967.2:c.591_614dup MANE Select	NP_001159439.1:p.Pro205_Pro206insLeuThrGlyLeuLeuProProPro
NM_032580.4:c.576_599dup	NP_115969.2:p.Pro200_Pro201insLeuThrGlyLeuLeuProProPro