Canonical Allele Identifier: CA645543380

Gene: NOTCH1

Linked Data

• COSMIC: COSM1737992

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504840_136504850delinsAGACTGGG , CM000671.2:g.136504840_136504850delinsAGACTGGG	GRCh38
NC_000009.11:g.139399292_139399302delinsAGACTGGG , CM000671.1:g.139399292_139399302delinsAGACTGGG	GRCh37
NC_000009.10:g.138519113_138519123delinsAGACTGGG	NCBI36
NG_007458.1:g.45937_45947delinsCCCAGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2648_2658delinsCCCAGTCT
ENST00000651671.1:c.4841_4851delinsCCCAGTCT MANE Select	ENSP00000498587.1:p.Gln1614_Phe1617delinsProGlnSer
ENST00000679595.1:c.4841_4851delinsCCCAGTCT	ENSP00000506241.1:p.Gln1614_Phe1617delinsProGlnSer
ENST00000680133.1:c.4727_4737delinsCCCAGTCT	ENSP00000505319.1:p.Gln1576_Phe1579delinsProGlnSer
ENST00000680218.1:c.4721_4731delinsCCCAGTCT	ENSP00000505339.1:p.Gln1574_Phe1577delinsProGlnSer
ENST00000680668.1:c.4727_4737delinsCCCAGTCT	ENSP00000506336.1:p.Gln1576_Phe1579delinsProGlnSer
ENST00000680778.1:c.2438_2448delinsCCCAGTCT	ENSP00000506033.1:p.Gln813_Phe816delinsProGlnSer
ENST00000680924.1:c.*2241_*2251delinsCCCAGTCT	ENSP00000506031.1:n.*2241_*2251delinsCCCAGTCT
ENST00000681135.1:c.*2450_*2460delinsCCCAGTCT	ENSP00000506636.1:n.*2450_*2460delinsCCCAGTCT
ENST00000681298.1:n.1654_1664delinsCCCAGTCT
ENST00000681454.1:c.*4077_*4087delinsCCCAGTCT	ENSP00000505763.1:n.*4077_*4087delinsCCCAGTCT
ENST00000277541.6:c.4841_4851delinsCCCAGTCT	ENSP00000277541.6:p.Gln1614_Phe1617delinsProGlnSer
NM_017617.3:c.4841_4851delinsCCCAGTCT	NP_060087.3:p.Gln1614_Phe1617delinsProGlnSer
XM_011518717.1:c.4142_4152delinsCCCAGTCT	XP_011517019.1:p.Gln1381_Phe1384delinsProGlnSer
NM_017617.5:c.4841_4851delinsCCCAGTCT MANE Select	NP_060087.3:p.Gln1614_Phe1617delinsProGlnSer
XM_011518717.2:c.4118_4128delinsCCCAGTCT	XP_011517019.2:p.Gln1373_Phe1376delinsProGlnSer