Canonical Allele Identifier: CA2635936662

Gene: HES7

Linked Data

• gnomAD v4: 17-8121598-CGGCGGGGGCAGCGGGGCCTTGGGCGCCCCGTCTTGTCTGTGAGGCGGCGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121604_8121654del , CM000679.2:g.8121604_8121654del	GRCh38
NC_000017.10:g.8024922_8024972del , CM000679.1:g.8024922_8024972del	GRCh37
NC_000017.9:g.7965647_7965697del	NCBI36
NG_015807.1:g.2268_2318del
NG_015816.1:g.7444_7494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.615_665del MANE Select	ENSP00000446205.2:p.Pro206_Pro222del
ENST00000317814.8:c.600_650del	ENSP00000314774.4:p.Pro201_Pro217del
ENST00000541682.6:c.615_665del	ENSP00000446205.2:p.Pro206_Pro222del
NM_001165967.1:c.615_665del	NP_001159439.1:p.Pro206_Pro222del
NM_032580.3:c.600_650del	NP_115969.2:p.Pro201_Pro217del
XM_011524038.1:c.720_770del	XP_011522340.1:p.Pro241_Pro257del
XM_011524039.1:c.711_761del	XP_011522341.1:p.Pro238_Pro254del
XM_011524040.1:c.711_761del	XP_011522342.1:p.Pro238_Pro254del
XM_011524041.1:c.702_752del	XP_011522343.1:p.Pro235_Pro251del
XM_011524042.1:c.573_623del	XP_011522344.1:p.Pro192_Pro208del
XR_934203.1:n.69+1790_69+1840del
XM_017025232.1:c.720_770del	XP_016880721.1:p.Pro241_Pro257del
XM_024451007.1:c.720_770del	XP_024306775.1:p.Pro241_Pro257del
NM_001165967.2:c.615_665del MANE Select	NP_001159439.1:p.Pro206_Pro222del
NM_032580.4:c.600_650del	NP_115969.2:p.Pro201_Pro217del