Canonical Allele Identifier: CA645543474

Gene: NOTCH1

Linked Data

• COSMIC: COSM5751458 ; COSM5751459

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504919_136504921dup , CM000671.2:g.136504919_136504921dup	GRCh38
NC_000009.11:g.139399371_139399373dup , CM000671.1:g.139399371_139399373dup	GRCh37
NC_000009.10:g.138519192_138519194dup	NCBI36
NG_007458.1:g.45867_45869dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2578_2580dup
ENST00000651671.1:c.4771_4773dup MANE Select	ENSP00000498587.1:p.His1591_Phe1592insHis
ENST00000679595.1:c.4771_4773dup	ENSP00000506241.1:p.His1591_Phe1592insHis
ENST00000680133.1:c.4657_4659dup	ENSP00000505319.1:p.His1553_Phe1554insHis
ENST00000680218.1:c.4651_4653dup	ENSP00000505339.1:p.His1551_Phe1552insHis
ENST00000680668.1:c.4657_4659dup	ENSP00000506336.1:p.His1553_Phe1554insHis
ENST00000680778.1:c.2368_2370dup	ENSP00000506033.1:p.His790_Phe791insHis
ENST00000680924.1:c.*2171_*2173dup	ENSP00000506031.1:n.*2171_*2173dup
ENST00000681135.1:c.*2380_*2382dup	ENSP00000506636.1:n.*2380_*2382dup
ENST00000681298.1:n.1584_1586dup
ENST00000681454.1:c.*4007_*4009dup	ENSP00000505763.1:n.*4007_*4009dup
ENST00000277541.6:c.4771_4773dup	ENSP00000277541.6:p.His1591_Phe1592insHis
NM_017617.3:c.4771_4773dup	NP_060087.3:p.His1591_Phe1592insHis
XM_011518717.1:c.4072_4074dup	XP_011517019.1:p.His1358_Phe1359insHis
NM_017617.5:c.4771_4773dup MANE Select	NP_060087.3:p.His1591_Phe1592insHis
XM_011518717.2:c.4048_4050dup	XP_011517019.2:p.His1350_Phe1351insHis