Canonical Allele Identifier: CA645543374

Gene: NOTCH1

Linked Data

• COSMIC: COSM1173472 ; COSM1173473

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504767_136504785del , CM000671.2:g.136504767_136504785del	GRCh38
NC_000009.11:g.139399219_139399237del , CM000671.1:g.139399219_139399237del	GRCh37
NC_000009.10:g.138519040_138519058del	NCBI36
NG_007458.1:g.46002_46020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2713_2731del
ENST00000651671.1:c.4906_4924del MANE Select	ENSP00000498587.1:p.Glu1636ThrfsTer7
ENST00000679595.1:c.4906_4924del	ENSP00000506241.1:p.Glu1636ThrfsTer7
ENST00000680133.1:c.4792_4810del	ENSP00000505319.1:p.Glu1598ThrfsTer7
ENST00000680218.1:c.4786_4804del	ENSP00000505339.1:p.Glu1596ThrfsTer7
ENST00000680668.1:c.4792_4810del	ENSP00000506336.1:p.Glu1598ThrfsTer7
ENST00000680778.1:c.2503_2521del	ENSP00000506033.1:p.Glu835ThrfsTer7
ENST00000680924.1:c.*2306_*2324del	ENSP00000506031.1:n.*2306_*2324del
ENST00000681135.1:c.*2515_*2533del	ENSP00000506636.1:n.*2515_*2533del
ENST00000681298.1:n.1719_1737del
ENST00000681454.1:c.*4142_*4160del	ENSP00000505763.1:n.*4142_*4160del
ENST00000277541.6:c.4906_4924del	ENSP00000277541.6:p.Glu1636ThrfsTer7
ENST00000494783.1:n.61_79del
NM_017617.3:c.4906_4924del	NP_060087.3:p.Glu1636ThrfsTer7
XM_011518717.1:c.4207_4225del	XP_011517019.1:p.Glu1403ThrfsTer7
NM_017617.5:c.4906_4924del MANE Select	NP_060087.3:p.Glu1636ThrfsTer7
XM_011518717.2:c.4183_4201del	XP_011517019.2:p.Glu1395ThrfsTer7