Canonical Allele Identifier: CA645543264

Gene: NOTCH1

Linked Data

• COSMIC: COSM5046406 ; COSM5046407

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498918_136498919del , CM000671.2:g.136498918_136498919del	GRCh38
NC_000009.11:g.139393370_139393371del , CM000671.1:g.139393370_139393371del	GRCh37
NC_000009.10:g.138513191_138513192del	NCBI36
NG_007458.1:g.51869_51870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6161_6162del MANE Select	ENSP00000498587.1:p.Lys2054ArgfsTer?
ENST00000679595.1:c.*1201_*1202del	ENSP00000506241.1:n.*1201_*1202del
ENST00000679969.1:n.2757_2758del
ENST00000680003.1:n.2493_2494del
ENST00000680133.1:c.6047_6048del	ENSP00000505319.1:p.Lys2016ArgfsTer?
ENST00000680218.1:c.6041_6042del	ENSP00000505339.1:p.Lys2014ArgfsTer?
ENST00000680668.1:c.6047_6048del	ENSP00000506336.1:p.Lys2016ArgfsTer?
ENST00000680778.1:c.3758_3759del	ENSP00000506033.1:p.Lys1253ArgfsTer?
ENST00000680924.1:c.*3561_*3562del	ENSP00000506031.1:n.*3561_*3562del
ENST00000681135.1:c.*3770_*3771del	ENSP00000506636.1:n.*3770_*3771del
ENST00000681298.1:n.4266_4267del
ENST00000681454.1:c.*5397_*5398del	ENSP00000505763.1:n.*5397_*5398del
ENST00000277541.6:c.6161_6162del	ENSP00000277541.6:p.Lys2054ArgfsTer?
NM_017617.3:c.6161_6162del	NP_060087.3:p.Lys2054ArgfsTer?
XM_011518717.1:c.5462_5463del	XP_011517019.1:p.Lys1821ArgfsTer?
NM_017617.5:c.6161_6162del MANE Select	NP_060087.3:p.Lys2054ArgfsTer?
XM_011518717.2:c.5438_5439del	XP_011517019.2:p.Lys1813ArgfsTer?