Canonical Allele Identifier: CA645543382

Gene: NOTCH1

Linked Data

• COSMIC: COSM5751949 ; COSM5751950

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504840_136504841insCTC , CM000671.2:g.136504840_136504841insCTC	GRCh38
NC_000009.11:g.139399292_139399293insCTC , CM000671.1:g.139399292_139399293insCTC	GRCh37
NC_000009.10:g.138519113_138519114insCTC	NCBI36
NG_007458.1:g.45946_45947insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2657_2658insGAG
ENST00000651671.1:c.4850_4851insGAG MANE Select	ENSP00000498587.1:p.Phe1617delinsLeuSer
ENST00000679595.1:c.4850_4851insGAG	ENSP00000506241.1:p.Phe1617delinsLeuSer
ENST00000680133.1:c.4736_4737insGAG	ENSP00000505319.1:p.Phe1579delinsLeuSer
ENST00000680218.1:c.4730_4731insGAG	ENSP00000505339.1:p.Phe1577delinsLeuSer
ENST00000680668.1:c.4736_4737insGAG	ENSP00000506336.1:p.Phe1579delinsLeuSer
ENST00000680778.1:c.2447_2448insGAG	ENSP00000506033.1:p.Phe816delinsLeuSer
ENST00000680924.1:c.*2250_*2251insGAG	ENSP00000506031.1:n.*2250_*2251insGAG
ENST00000681135.1:c.*2459_*2460insGAG	ENSP00000506636.1:n.*2459_*2460insGAG
ENST00000681298.1:n.1663_1664insGAG
ENST00000681454.1:c.*4086_*4087insGAG	ENSP00000505763.1:n.*4086_*4087insGAG
ENST00000277541.6:c.4850_4851insGAG	ENSP00000277541.6:p.Phe1617delinsLeuSer
ENST00000494783.1:n.5_6insGAG
NM_017617.3:c.4850_4851insGAG	NP_060087.3:p.Phe1617delinsLeuSer
XM_011518717.1:c.4151_4152insGAG	XP_011517019.1:p.Phe1384delinsLeuSer
NM_017617.5:c.4850_4851insGAG MANE Select	NP_060087.3:p.Phe1617delinsLeuSer
XM_011518717.2:c.4127_4128insGAG	XP_011517019.2:p.Phe1376delinsLeuSer