Canonical Allele Identifier: CA645543411

Gene: NOTCH1

Linked Data

• COSMIC: COSM28766

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504873_136504874insTCTTCGTTTCTCGGT , CM000671.2:g.136504873_136504874insTCTTCGTTTCTCGGT	GRCh38
NC_000009.11:g.139399325_139399326insTCTTCGTTTCTCGGT , CM000671.1:g.139399325_139399326insTCTTCGTTTCTCGGT	GRCh37
NC_000009.10:g.138519146_138519147insTCTTCGTTTCTCGGT	NCBI36
NG_007458.1:g.45913_45914insACCGAGAAACGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2624_2625insACCGAGAAACGAAGA
ENST00000651671.1:c.4817_4818insACCGAGAAACGAAGA MANE Select	ENSP00000498587.1:p.Phe1606delinsLeuProArgAsnGluAsp
ENST00000679595.1:c.4817_4818insACCGAGAAACGAAGA	ENSP00000506241.1:p.Phe1606delinsLeuProArgAsnGluAsp
ENST00000680133.1:c.4703_4704insACCGAGAAACGAAGA	ENSP00000505319.1:p.Phe1568delinsLeuProArgAsnGluAsp
ENST00000680218.1:c.4697_4698insACCGAGAAACGAAGA	ENSP00000505339.1:p.Phe1566delinsLeuProArgAsnGluAsp
ENST00000680668.1:c.4703_4704insACCGAGAAACGAAGA	ENSP00000506336.1:p.Phe1568delinsLeuProArgAsnGluAsp
ENST00000680778.1:c.2414_2415insACCGAGAAACGAAGA	ENSP00000506033.1:p.Phe805delinsLeuProArgAsnGluAsp
ENST00000680924.1:c.*2217_*2218insACCGAGAAACGAAGA	ENSP00000506031.1:n.*2217_*2218insACCGAGAAACGAAGA
ENST00000681135.1:c.*2426_*2427insACCGAGAAACGAAGA	ENSP00000506636.1:n.*2426_*2427insACCGAGAAACGAAGA
ENST00000681298.1:n.1630_1631insACCGAGAAACGAAGA
ENST00000681454.1:c.*4053_*4054insACCGAGAAACGAAGA	ENSP00000505763.1:n.*4053_*4054insACCGAGAAACGAAGA
ENST00000277541.6:c.4817_4818insACCGAGAAACGAAGA	ENSP00000277541.6:p.Phe1606delinsLeuProArgAsnGluAsp
NM_017617.3:c.4817_4818insACCGAGAAACGAAGA	NP_060087.3:p.Phe1606delinsLeuProArgAsnGluAsp
XM_011518717.1:c.4118_4119insACCGAGAAACGAAGA	XP_011517019.1:p.Phe1373delinsLeuProArgAsnGluAsp
NM_017617.5:c.4817_4818insACCGAGAAACGAAGA MANE Select	NP_060087.3:p.Phe1606delinsLeuProArgAsnGluAsp
XM_011518717.2:c.4094_4095insACCGAGAAACGAAGA	XP_011517019.2:p.Phe1365delinsLeuProArgAsnGluAsp