Canonical Allele Identifier: CA645543390

Gene: NOTCH1

Linked Data

• COSMIC: COSM133804

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504849_136504873del , CM000671.2:g.136504849_136504873del	GRCh38
NC_000009.11:g.139399301_139399325del , CM000671.1:g.139399301_139399325del	GRCh37
NC_000009.10:g.138519122_138519146del	NCBI36
NG_007458.1:g.45914_45938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2625_2649del
ENST00000651671.1:c.4818_4842del MANE Select	ENSP00000498587.1:p.Phe1606LeufsTer2
ENST00000679595.1:c.4818_4842del	ENSP00000506241.1:p.Phe1606LeufsTer2
ENST00000680133.1:c.4704_4728del	ENSP00000505319.1:p.Phe1568LeufsTer2
ENST00000680218.1:c.4698_4722del	ENSP00000505339.1:p.Phe1566LeufsTer2
ENST00000680668.1:c.4704_4728del	ENSP00000506336.1:p.Phe1568LeufsTer2
ENST00000680778.1:c.2415_2439del	ENSP00000506033.1:p.Phe805LeufsTer2
ENST00000680924.1:c.*2218_*2242del	ENSP00000506031.1:n.*2218_*2242del
ENST00000681135.1:c.*2427_*2451del	ENSP00000506636.1:n.*2427_*2451del
ENST00000681298.1:n.1631_1655del
ENST00000681454.1:c.*4054_*4078del	ENSP00000505763.1:n.*4054_*4078del
ENST00000277541.6:c.4818_4842del	ENSP00000277541.6:p.Phe1606LeufsTer2
NM_017617.3:c.4818_4842del	NP_060087.3:p.Phe1606LeufsTer2
XM_011518717.1:c.4119_4143del	XP_011517019.1:p.Phe1373LeufsTer2
NM_017617.5:c.4818_4842del MANE Select	NP_060087.3:p.Phe1606LeufsTer2
XM_011518717.2:c.4095_4119del	XP_011517019.2:p.Phe1365LeufsTer2