Canonical Allele Identifier: CA645543420

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336611
• COSMIC: COSM1737998

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504873_136504874insCCTCCT , CM000671.2:g.136504873_136504874insCCTCCT	GRCh38
NC_000009.11:g.139399325_139399326insCCTCCT , CM000671.1:g.139399325_139399326insCCTCCT	GRCh37
NC_000009.10:g.138519146_138519147insCCTCCT	NCBI36
NG_007458.1:g.45913_45914insAGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2624_2625insAGGAGG
ENST00000651671.1:c.4817_4818insAGGAGG MANE Select	ENSP00000498587.1:p.Phe1606delinsLeuGlyGly
ENST00000679595.1:c.4817_4818insAGGAGG	ENSP00000506241.1:p.Phe1606delinsLeuGlyGly
ENST00000680133.1:c.4703_4704insAGGAGG	ENSP00000505319.1:p.Phe1568delinsLeuGlyGly
ENST00000680218.1:c.4697_4698insAGGAGG	ENSP00000505339.1:p.Phe1566delinsLeuGlyGly
ENST00000680668.1:c.4703_4704insAGGAGG	ENSP00000506336.1:p.Phe1568delinsLeuGlyGly
ENST00000680778.1:c.2414_2415insAGGAGG	ENSP00000506033.1:p.Phe805delinsLeuGlyGly
ENST00000680924.1:c.*2217_*2218insAGGAGG	ENSP00000506031.1:n.*2217_*2218insAGGAGG
ENST00000681135.1:c.*2426_*2427insAGGAGG	ENSP00000506636.1:n.*2426_*2427insAGGAGG
ENST00000681298.1:n.1630_1631insAGGAGG
ENST00000681454.1:c.*4053_*4054insAGGAGG	ENSP00000505763.1:n.*4053_*4054insAGGAGG
ENST00000277541.6:c.4817_4818insAGGAGG	ENSP00000277541.6:p.Phe1606delinsLeuGlyGly
NM_017617.3:c.4817_4818insAGGAGG	NP_060087.3:p.Phe1606delinsLeuGlyGly
XM_011518717.1:c.4118_4119insAGGAGG	XP_011517019.1:p.Phe1373delinsLeuGlyGly
NM_017617.5:c.4817_4818insAGGAGG MANE Select	NP_060087.3:p.Phe1606delinsLeuGlyGly
XM_011518717.2:c.4094_4095insAGGAGG	XP_011517019.2:p.Phe1365delinsLeuGlyGly