Canonical Allele Identifier: CA645543467

Gene: NOTCH1

Linked Data

• COSMIC: COSM1737988

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504916_136504921delinsGGA , CM000671.2:g.136504916_136504921delinsGGA	GRCh38
NC_000009.11:g.139399368_139399373delinsGGA , CM000671.1:g.139399368_139399373delinsGGA	GRCh37
NC_000009.10:g.138519189_138519194delinsGGA	NCBI36
NG_007458.1:g.45866_45871delinsTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2577_2582delinsTCC
ENST00000651671.1:c.4770_4775delinsTCC MANE Select	ENSP00000498587.1:p.His1591_Phe1592delinsPro
ENST00000679595.1:c.4770_4775delinsTCC	ENSP00000506241.1:p.His1591_Phe1592delinsPro
ENST00000680133.1:c.4656_4661delinsTCC	ENSP00000505319.1:p.His1553_Phe1554delinsPro
ENST00000680218.1:c.4650_4655delinsTCC	ENSP00000505339.1:p.His1551_Phe1552delinsPro
ENST00000680668.1:c.4656_4661delinsTCC	ENSP00000506336.1:p.His1553_Phe1554delinsPro
ENST00000680778.1:c.2367_2372delinsTCC	ENSP00000506033.1:p.His790_Phe791delinsPro
ENST00000680924.1:c.*2170_*2175delinsTCC	ENSP00000506031.1:n.*2170_*2175delinsTCC
ENST00000681135.1:c.*2379_*2384delinsTCC	ENSP00000506636.1:n.*2379_*2384delinsTCC
ENST00000681298.1:n.1583_1588delinsTCC
ENST00000681454.1:c.*4006_*4011delinsTCC	ENSP00000505763.1:n.*4006_*4011delinsTCC
ENST00000277541.6:c.4770_4775delinsTCC	ENSP00000277541.6:p.His1591_Phe1592delinsPro
NM_017617.3:c.4770_4775delinsTCC	NP_060087.3:p.His1591_Phe1592delinsPro
XM_011518717.1:c.4071_4076delinsTCC	XP_011517019.1:p.His1358_Phe1359delinsPro
NM_017617.5:c.4770_4775delinsTCC MANE Select	NP_060087.3:p.His1591_Phe1592delinsPro
XM_011518717.2:c.4047_4052delinsTCC	XP_011517019.2:p.His1350_Phe1351delinsPro