Canonical Allele Identifier: CA624724225

Gene: HES7

Linked Data

• dbSNP Id: rs1454945978
• gnomAD v2: 17-8024868-GC-G
• gnomAD v4: 17-8121550-GC-G
• MyVariant Identifiers: chr17:g.8024869del (hg19) ; chr17:g.8121551del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121555del , CM000679.2:g.8121555del	GRCh38
NC_000017.10:g.8024873del , CM000679.1:g.8024873del	GRCh37
NC_000017.9:g.7965598del	NCBI36
NG_015807.1:g.2366del
NG_015816.1:g.7542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.*20del MANE Select	ENSP00000446205.2:n.*20del
ENST00000541682.6:c.713del	ENSP00000446205.2:n.713del
NM_001165967.1:c.*20del	NP_001159439.1:n.*20del
NM_032580.3:c.*20del	NP_115969.2:n.*20del
XM_011524038.1:c.*20del	XP_011522340.1:n.*20del
XM_011524039.1:c.*20del	XP_011522341.1:n.*20del
XM_011524040.1:c.*20del	XP_011522342.1:n.*20del
XM_011524041.1:c.*20del	XP_011522343.1:n.*20del
XM_011524042.1:c.*20del	XP_011522344.1:n.*20del
XR_934203.1:n.69+1741del
XM_017025232.1:c.*20del	XP_016880721.1:n.*20del
XM_024451007.1:c.*20del	XP_024306775.1:n.*20del
NM_001165967.2:c.*20del MANE Select	NP_001159439.1:n.*20del
NM_032580.4:c.*20del	NP_115969.2:n.*20del