Canonical Allele Identifier: CA775623174

Gene: HES7

Linked Data

• dbSNP Id: rs1299112635
• gnomAD v3: 17-8121649-T-TGGCGGC
• gnomAD v4: 17-8121649-T-TGGCGGC
• MyVariant Identifiers: chr17:g.8024967_8024968insGGCGGC (hg19) ; chr17:g.8121649_8121650insGGCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121653_8121658dup , CM000679.2:g.8121653_8121658dup	GRCh38
NC_000017.10:g.8024971_8024976dup , CM000679.1:g.8024971_8024976dup	GRCh37
NC_000017.9:g.7965696_7965701dup	NCBI36
NG_015807.1:g.2262_2267dup
NG_015816.1:g.7438_7443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.609_614dup MANE Select	ENSP00000446205.2:p.Pro205_Pro206insProPro
ENST00000317814.8:c.594_599dup	ENSP00000314774.4:p.Pro200_Pro201insProPro
ENST00000541682.6:c.609_614dup	ENSP00000446205.2:p.Pro205_Pro206insProPro
NM_001165967.1:c.609_614dup	NP_001159439.1:p.Pro205_Pro206insProPro
NM_032580.3:c.594_599dup	NP_115969.2:p.Pro200_Pro201insProPro
XM_011524038.1:c.714_719dup	XP_011522340.1:p.Pro240_Pro241insProPro
XM_011524039.1:c.705_710dup	XP_011522341.1:p.Pro237_Pro238insProPro
XM_011524040.1:c.705_710dup	XP_011522342.1:p.Pro237_Pro238insProPro
XM_011524041.1:c.696_701dup	XP_011522343.1:p.Pro234_Pro235insProPro
XM_011524042.1:c.567_572dup	XP_011522344.1:p.Pro191_Pro192insProPro
XR_934203.1:n.69+1839_69+1844dup
XM_017025232.1:c.714_719dup	XP_016880721.1:p.Pro240_Pro241insProPro
XM_024451007.1:c.714_719dup	XP_024306775.1:p.Pro240_Pro241insProPro
NM_001165967.2:c.609_614dup MANE Select	NP_001159439.1:p.Pro205_Pro206insProPro
NM_032580.4:c.594_599dup	NP_115969.2:p.Pro200_Pro201insProPro