Canonical Allele Identifier: CA645543448

Gene: NOTCH1

Linked Data

• COSMIC: COSM5751456 ; COSM5751457

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504913_136504914insC , CM000671.2:g.136504913_136504914insC	GRCh38
NC_000009.11:g.139399365_139399366insC , CM000671.1:g.139399365_139399366insC	GRCh37
NC_000009.10:g.138519186_138519187insC	NCBI36
NG_007458.1:g.45873_45874insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2584_2585insG
ENST00000651671.1:c.4777_4778insG MANE Select	ENSP00000498587.1:p.Leu1593ArgfsTer17
ENST00000679595.1:c.4777_4778insG	ENSP00000506241.1:p.Leu1593ArgfsTer17
ENST00000680133.1:c.4663_4664insG	ENSP00000505319.1:p.Leu1555ArgfsTer17
ENST00000680218.1:c.4657_4658insG	ENSP00000505339.1:p.Leu1553ArgfsTer17
ENST00000680668.1:c.4663_4664insG	ENSP00000506336.1:p.Leu1555ArgfsTer17
ENST00000680778.1:c.2374_2375insG	ENSP00000506033.1:p.Leu792ArgfsTer17
ENST00000680924.1:c.*2177_*2178insG	ENSP00000506031.1:n.*2177_*2178insG
ENST00000681135.1:c.*2386_*2387insG	ENSP00000506636.1:n.*2386_*2387insG
ENST00000681298.1:n.1590_1591insG
ENST00000681454.1:c.*4013_*4014insG	ENSP00000505763.1:n.*4013_*4014insG
ENST00000277541.6:c.4777_4778insG	ENSP00000277541.6:p.Leu1593ArgfsTer17
NM_017617.3:c.4777_4778insG	NP_060087.3:p.Leu1593ArgfsTer17
XM_011518717.1:c.4078_4079insG	XP_011517019.1:p.Leu1360ArgfsTer17
NM_017617.5:c.4777_4778insG MANE Select	NP_060087.3:p.Leu1593ArgfsTer17
XM_011518717.2:c.4054_4055insG	XP_011517019.2:p.Leu1352ArgfsTer17