Canonical Allele Identifier: CA645543415

Gene: NOTCH1

Linked Data

• COSMIC: COSM5880318

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504874_136504876delinsTCCCCCCCGGCT , CM000671.2:g.136504874_136504876delinsTCCCCCCCGGCT	GRCh38
NC_000009.11:g.139399326_139399328delinsTCCCCCCCGGCT , CM000671.1:g.139399326_139399328delinsTCCCCCCCGGCT	GRCh37
NC_000009.10:g.138519147_138519149delinsTCCCCCCCGGCT	NCBI36
NG_007458.1:g.45911_45913delinsAGCCGGGGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2622_2624delinsAGCCGGGGGGGA
ENST00000651671.1:c.4815_4817delinsAGCCGGGGGGGA MANE Select	ENSP00000498587.1:p.Phe1606delinsAlaGlyGlyAsp
ENST00000679595.1:c.4815_4817delinsAGCCGGGGGGGA	ENSP00000506241.1:p.Phe1606delinsAlaGlyGlyAsp
ENST00000680133.1:c.4701_4703delinsAGCCGGGGGGGA	ENSP00000505319.1:p.Phe1568delinsAlaGlyGlyAsp
ENST00000680218.1:c.4695_4697delinsAGCCGGGGGGGA	ENSP00000505339.1:p.Phe1566delinsAlaGlyGlyAsp
ENST00000680668.1:c.4701_4703delinsAGCCGGGGGGGA	ENSP00000506336.1:p.Phe1568delinsAlaGlyGlyAsp
ENST00000680778.1:c.2412_2414delinsAGCCGGGGGGGA	ENSP00000506033.1:p.Phe805delinsAlaGlyGlyAsp
ENST00000680924.1:c.*2215_*2217delinsAGCCGGGGGGGA	ENSP00000506031.1:n.*2215_*2217delinsAGCCGGGGGGGA
ENST00000681135.1:c.*2424_*2426delinsAGCCGGGGGGGA	ENSP00000506636.1:n.*2424_*2426delinsAGCCGGGGGGGA
ENST00000681298.1:n.1628_1630delinsAGCCGGGGGGGA
ENST00000681454.1:c.*4051_*4053delinsAGCCGGGGGGGA	ENSP00000505763.1:n.*4051_*4053delinsAGCCGGGGGGGA
ENST00000277541.6:c.4815_4817delinsAGCCGGGGGGGA	ENSP00000277541.6:p.Phe1606delinsAlaGlyGlyAsp
NM_017617.3:c.4815_4817delinsAGCCGGGGGGGA	NP_060087.3:p.Phe1606delinsAlaGlyGlyAsp
XM_011518717.1:c.4116_4118delinsAGCCGGGGGGGA	XP_011517019.1:p.Phe1373delinsAlaGlyGlyAsp
NM_017617.5:c.4815_4817delinsAGCCGGGGGGGA MANE Select	NP_060087.3:p.Phe1606delinsAlaGlyGlyAsp
XM_011518717.2:c.4092_4094delinsAGCCGGGGGGGA	XP_011517019.2:p.Phe1365delinsAlaGlyGlyAsp