Canonical Allele Identifier: CA645543472

Gene: NOTCH1

Linked Data

• COSMIC: COSM5751664 ; COSM5751665

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504916_136504917insG , CM000671.2:g.136504916_136504917insG	GRCh38
NC_000009.11:g.139399368_139399369insG , CM000671.1:g.139399368_139399369insG	GRCh37
NC_000009.10:g.138519189_138519190insG	NCBI36
NG_007458.1:g.45870_45871insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2581_2582insC
ENST00000651671.1:c.4774_4775insC MANE Select	ENSP00000498587.1:p.Phe1592SerfsTer18
ENST00000679595.1:c.4774_4775insC	ENSP00000506241.1:p.Phe1592SerfsTer18
ENST00000680133.1:c.4660_4661insC	ENSP00000505319.1:p.Phe1554SerfsTer18
ENST00000680218.1:c.4654_4655insC	ENSP00000505339.1:p.Phe1552SerfsTer18
ENST00000680668.1:c.4660_4661insC	ENSP00000506336.1:p.Phe1554SerfsTer18
ENST00000680778.1:c.2371_2372insC	ENSP00000506033.1:p.Phe791SerfsTer18
ENST00000680924.1:c.*2174_*2175insC	ENSP00000506031.1:n.*2174_*2175insC
ENST00000681135.1:c.*2383_*2384insC	ENSP00000506636.1:n.*2383_*2384insC
ENST00000681298.1:n.1587_1588insC
ENST00000681454.1:c.*4010_*4011insC	ENSP00000505763.1:n.*4010_*4011insC
ENST00000277541.6:c.4774_4775insC	ENSP00000277541.6:p.Phe1592SerfsTer18
NM_017617.3:c.4774_4775insC	NP_060087.3:p.Phe1592SerfsTer18
XM_011518717.1:c.4075_4076insC	XP_011517019.1:p.Phe1359SerfsTer18
NM_017617.5:c.4774_4775insC MANE Select	NP_060087.3:p.Phe1592SerfsTer18
XM_011518717.2:c.4051_4052insC	XP_011517019.2:p.Phe1351SerfsTer18