Canonical Allele Identifier: CA645543438

Gene: NOTCH1

Linked Data

• COSMIC: COSM1235031

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504901_136504906delinsGCCTGA , CM000671.2:g.136504901_136504906delinsGCCTGA	GRCh38
NC_000009.11:g.139399353_139399358delinsGCCTGA , CM000671.1:g.139399353_139399358delinsGCCTGA	GRCh37
NC_000009.10:g.138519174_138519179delinsGCCTGA	NCBI36
NG_007458.1:g.45881_45886delinsTCAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2592_2597delinsTCAGGC
ENST00000651671.1:c.4785_4790delinsTCAGGC MANE Select	ENSP00000498587.1:p.Glu1595_Ser1597delinsAspGlnAla
ENST00000679595.1:c.4785_4790delinsTCAGGC	ENSP00000506241.1:p.Glu1595_Ser1597delinsAspGlnAla
ENST00000680133.1:c.4671_4676delinsTCAGGC	ENSP00000505319.1:p.Glu1557_Ser1559delinsAspGlnAla
ENST00000680218.1:c.4665_4670delinsTCAGGC	ENSP00000505339.1:p.Glu1555_Ser1557delinsAspGlnAla
ENST00000680668.1:c.4671_4676delinsTCAGGC	ENSP00000506336.1:p.Glu1557_Ser1559delinsAspGlnAla
ENST00000680778.1:c.2382_2387delinsTCAGGC	ENSP00000506033.1:p.Glu794_Ser796delinsAspGlnAla
ENST00000680924.1:c.*2185_*2190delinsTCAGGC	ENSP00000506031.1:n.*2185_*2190delinsTCAGGC
ENST00000681135.1:c.*2394_*2399delinsTCAGGC	ENSP00000506636.1:n.*2394_*2399delinsTCAGGC
ENST00000681298.1:n.1598_1603delinsTCAGGC
ENST00000681454.1:c.*4021_*4026delinsTCAGGC	ENSP00000505763.1:n.*4021_*4026delinsTCAGGC
ENST00000277541.6:c.4785_4790delinsTCAGGC	ENSP00000277541.6:p.Glu1595_Ser1597delinsAspGlnAla
NM_017617.3:c.4785_4790delinsTCAGGC	NP_060087.3:p.Glu1595_Ser1597delinsAspGlnAla
XM_011518717.1:c.4086_4091delinsTCAGGC	XP_011517019.1:p.Glu1362_Ser1364delinsAspGlnAla
NM_017617.5:c.4785_4790delinsTCAGGC MANE Select	NP_060087.3:p.Glu1595_Ser1597delinsAspGlnAla
XM_011518717.2:c.4062_4067delinsTCAGGC	XP_011517019.2:p.Glu1354_Ser1356delinsAspGlnAla