Canonical Allele Identifier: CA645543449

Gene: NOTCH1

Linked Data

• COSMIC: COSM5751300 ; COSM5751301

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504915dup , CM000671.2:g.136504915dup	GRCh38
NC_000009.11:g.139399367dup , CM000671.1:g.139399367dup	GRCh37
NC_000009.10:g.138519188dup	NCBI36
NG_007458.1:g.45873dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2584dup
ENST00000651671.1:c.4777dup MANE Select	ENSP00000498587.1:p.Leu1593ProfsTer17
ENST00000679595.1:c.4777dup	ENSP00000506241.1:p.Leu1593ProfsTer17
ENST00000680133.1:c.4663dup	ENSP00000505319.1:p.Leu1555ProfsTer17
ENST00000680218.1:c.4657dup	ENSP00000505339.1:p.Leu1553ProfsTer17
ENST00000680668.1:c.4663dup	ENSP00000506336.1:p.Leu1555ProfsTer17
ENST00000680778.1:c.2374dup	ENSP00000506033.1:p.Leu792ProfsTer17
ENST00000680924.1:c.*2177dup	ENSP00000506031.1:n.*2177dup
ENST00000681135.1:c.*2386dup	ENSP00000506636.1:n.*2386dup
ENST00000681298.1:n.1590dup
ENST00000681454.1:c.*4013dup	ENSP00000505763.1:n.*4013dup
ENST00000277541.6:c.4777dup	ENSP00000277541.6:p.Leu1593ProfsTer17
NM_017617.3:c.4777dup	NP_060087.3:p.Leu1593ProfsTer17
XM_011518717.1:c.4078dup	XP_011517019.1:p.Leu1360ProfsTer17
NM_017617.5:c.4777dup MANE Select	NP_060087.3:p.Leu1593ProfsTer17
XM_011518717.2:c.4054dup	XP_011517019.2:p.Leu1352ProfsTer17