Canonical Allele Identifier: CA645543404

Gene: NOTCH1

Linked Data

• COSMIC: COSM28549

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504911_136504912insTGGGCGGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCG , CM000671.2:g.136504911_136504912insTGGGCGGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCG	GRCh38
NC_000009.11:g.139399363_139399364insTGGGCGGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCG , CM000671.1:g.139399363_139399364insTGGGCGGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCG	GRCh37
NC_000009.10:g.138519184_138519185insTGGGCGGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCG	NCBI36
NG_007458.1:g.45914_45915insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2625_2626insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC
ENST00000651671.1:c.4818_4819insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC MANE Select	ENSP00000498587.1:p.Phe1606_Lys1607insArgProArgGluLeuSerArgVa...
ENST00000679595.1:c.4818_4819insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC	ENSP00000506241.1:p.Phe1606_Lys1607insArgProArgGluLeuSerArgVa...
ENST00000680133.1:c.4704_4705insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC	ENSP00000505319.1:p.Phe1568_Lys1569insArgProArgGluLeuSerArgVa...
ENST00000680218.1:c.4698_4699insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC	ENSP00000505339.1:p.Phe1566_Lys1567insArgProArgGluLeuSerArgVa...
ENST00000680668.1:c.4704_4705insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC	ENSP00000506336.1:p.Phe1568_Lys1569insArgProArgGluLeuSerArgVa...
ENST00000680778.1:c.2415_2416insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC	ENSP00000506033.1:p.Phe805_Lys806insArgProArgGluLeuSerArgValL...
ENST00000680924.1:c.*2218_*2219insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC	ENSP00000506031.1:n.*2218_*2219insCGCCCACGGGAGCTCAGCCGCGTGCTG...
ENST00000681135.1:c.*2427_*2428insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC	ENSP00000506636.1:n.*2427_*2428insCGCCCACGGGAGCTCAGCCGCGTGCTG...
ENST00000681298.1:n.1631_1632insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC
ENST00000681454.1:c.*4054_*4055insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC	ENSP00000505763.1:n.*4054_*4055insCGCCCACGGGAGCTCAGCCGCGTGCTG...
ENST00000277541.6:c.4818_4819insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC	ENSP00000277541.6:p.Phe1606_Lys1607insArgProArgGluLeuSerArgVa...
NM_017617.3:c.4818_4819insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC	NP_060087.3:p.Phe1606_Lys1607insArgProArgGluLeuSerArgValLeuHi...
XM_011518717.1:c.4119_4120insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC	XP_011517019.1:p.Phe1373_Lys1374insArgProArgGluLeuSerArgValLe...
NM_017617.5:c.4818_4819insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC MANE Select	NP_060087.3:p.Phe1606_Lys1607insArgProArgGluLeuSerArgValLeuHi...
XM_011518717.2:c.4095_4096insCGCCCACGGGAGCTCAGCCGCGTGCTGCACACCAACGTGGTCTTC	XP_011517019.2:p.Phe1365_Lys1366insArgProArgGluLeuSerArgValLe...