Canonical Allele Identifier: CA2635936815

Gene: HES7

Linked Data

• gnomAD v4: 17-8121623-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121627del , CM000679.2:g.8121627del	GRCh38
NC_000017.10:g.8024945del , CM000679.1:g.8024945del	GRCh37
NC_000017.9:g.7965670del	NCBI36
NG_015807.1:g.2293del
NG_015816.1:g.7469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.640del MANE Select	ENSP00000446205.2:p.Ala214ArgfsTer?
ENST00000317814.8:c.625del	ENSP00000314774.4:p.Ala209ArgfsTer?
ENST00000541682.6:c.640del	ENSP00000446205.2:p.Ala214ArgfsTer?
NM_001165967.1:c.640del	NP_001159439.1:p.Ala214ArgfsTer?
NM_032580.3:c.625del	NP_115969.2:p.Ala209ArgfsTer?
XM_011524038.1:c.745del	XP_011522340.1:p.Ala249ArgfsTer?
XM_011524039.1:c.736del	XP_011522341.1:p.Ala246ArgfsTer?
XM_011524040.1:c.736del	XP_011522342.1:p.Ala246ArgfsTer?
XM_011524041.1:c.727del	XP_011522343.1:p.Ala243ArgfsTer?
XM_011524042.1:c.598del	XP_011522344.1:p.Ala200ArgfsTer?
XR_934203.1:n.69+1813del
XM_017025232.1:c.745del	XP_016880721.1:p.Ala249ArgfsTer?
XM_024451007.1:c.745del	XP_024306775.1:p.Ala249ArgfsTer?
NM_001165967.2:c.640del MANE Select	NP_001159439.1:p.Ala214ArgfsTer?
NM_032580.4:c.625del	NP_115969.2:p.Ala209ArgfsTer?