Canonical Allele Identifier: CA2635936928

Gene: HES7

Linked Data

• gnomAD v4: 17-8121650-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121652_8121653del , CM000679.2:g.8121652_8121653del	GRCh38
NC_000017.10:g.8024970_8024971del , CM000679.1:g.8024970_8024971del	GRCh37
NC_000017.9:g.7965695_7965696del	NCBI36
NG_015807.1:g.2265_2266del
NG_015816.1:g.7441_7442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.612_613del MANE Select	ENSP00000446205.2:p.Pro205ThrfsTer?
ENST00000317814.8:c.597_598del	ENSP00000314774.4:p.Pro200ThrfsTer?
ENST00000541682.6:c.612_613del	ENSP00000446205.2:p.Pro205ThrfsTer?
NM_001165967.1:c.612_613del	NP_001159439.1:p.Pro205ThrfsTer?
NM_032580.3:c.597_598del	NP_115969.2:p.Pro200ThrfsTer?
XM_011524038.1:c.717_718del	XP_011522340.1:p.Pro240ThrfsTer?
XM_011524039.1:c.708_709del	XP_011522341.1:p.Pro237ThrfsTer?
XM_011524040.1:c.708_709del	XP_011522342.1:p.Pro237ThrfsTer?
XM_011524041.1:c.699_700del	XP_011522343.1:p.Pro234ThrfsTer?
XM_011524042.1:c.570_571del	XP_011522344.1:p.Pro191ThrfsTer?
XR_934203.1:n.69+1838_69+1839del
XM_017025232.1:c.717_718del	XP_016880721.1:p.Pro240ThrfsTer?
XM_024451007.1:c.717_718del	XP_024306775.1:p.Pro240ThrfsTer?
NM_001165967.2:c.612_613del MANE Select	NP_001159439.1:p.Pro205ThrfsTer?
NM_032580.4:c.597_598del	NP_115969.2:p.Pro200ThrfsTer?