Canonical Allele Identifier: CA645543471

Gene: NOTCH1

Linked Data

• COSMIC: COSM27937

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504916_136504918delinsGTC , CM000671.2:g.136504916_136504918delinsGTC	GRCh38
NC_000009.11:g.139399368_139399370delinsGTC , CM000671.1:g.139399368_139399370delinsGTC	GRCh37
NC_000009.10:g.138519189_138519191delinsGTC	NCBI36
NG_007458.1:g.45869_45871delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2580_2582delinsGAC
ENST00000651671.1:c.4773_4775delinsGAC MANE Select	ENSP00000498587.1:p.His1591_Phe1592delinsGlnThr
ENST00000679595.1:c.4773_4775delinsGAC	ENSP00000506241.1:p.His1591_Phe1592delinsGlnThr
ENST00000680133.1:c.4659_4661delinsGAC	ENSP00000505319.1:p.His1553_Phe1554delinsGlnThr
ENST00000680218.1:c.4653_4655delinsGAC	ENSP00000505339.1:p.His1551_Phe1552delinsGlnThr
ENST00000680668.1:c.4659_4661delinsGAC	ENSP00000506336.1:p.His1553_Phe1554delinsGlnThr
ENST00000680778.1:c.2370_2372delinsGAC	ENSP00000506033.1:p.His790_Phe791delinsGlnThr
ENST00000680924.1:c.*2173_*2175delinsGAC	ENSP00000506031.1:n.*2173_*2175delinsGAC
ENST00000681135.1:c.*2382_*2384delinsGAC	ENSP00000506636.1:n.*2382_*2384delinsGAC
ENST00000681298.1:n.1586_1588delinsGAC
ENST00000681454.1:c.*4009_*4011delinsGAC	ENSP00000505763.1:n.*4009_*4011delinsGAC
ENST00000277541.6:c.4773_4775delinsGAC	ENSP00000277541.6:p.His1591_Phe1592delinsGlnThr
NM_017617.3:c.4773_4775delinsGAC	NP_060087.3:p.His1591_Phe1592delinsGlnThr
XM_011518717.1:c.4074_4076delinsGAC	XP_011517019.1:p.His1358_Phe1359delinsGlnThr
NM_017617.5:c.4773_4775delinsGAC MANE Select	NP_060087.3:p.His1591_Phe1592delinsGlnThr
XM_011518717.2:c.4050_4052delinsGAC	XP_011517019.2:p.His1350_Phe1351delinsGlnThr