Canonical Allele Identifier: CA645543413

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336631
• COSMIC: COSM5546613

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504874_136504875insGAGACCCGAATA , CM000671.2:g.136504874_136504875insGAGACCCGAATA	GRCh38
NC_000009.11:g.139399326_139399327insGAGACCCGAATA , CM000671.1:g.139399326_139399327insGAGACCCGAATA	GRCh37
NC_000009.10:g.138519147_138519148insGAGACCCGAATA	NCBI36
NG_007458.1:g.45913_45914insATTCGGGTCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2624_2625insATTCGGGTCTCT
ENST00000651671.1:c.4817_4818insATTCGGGTCTCT MANE Select	ENSP00000498587.1:p.Phe1606delinsLeuPheGlySerLeu
ENST00000679595.1:c.4817_4818insATTCGGGTCTCT	ENSP00000506241.1:p.Phe1606delinsLeuPheGlySerLeu
ENST00000680133.1:c.4703_4704insATTCGGGTCTCT	ENSP00000505319.1:p.Phe1568delinsLeuPheGlySerLeu
ENST00000680218.1:c.4697_4698insATTCGGGTCTCT	ENSP00000505339.1:p.Phe1566delinsLeuPheGlySerLeu
ENST00000680668.1:c.4703_4704insATTCGGGTCTCT	ENSP00000506336.1:p.Phe1568delinsLeuPheGlySerLeu
ENST00000680778.1:c.2414_2415insATTCGGGTCTCT	ENSP00000506033.1:p.Phe805delinsLeuPheGlySerLeu
ENST00000680924.1:c.*2217_*2218insATTCGGGTCTCT	ENSP00000506031.1:n.*2217_*2218insATTCGGGTCTCT
ENST00000681135.1:c.*2426_*2427insATTCGGGTCTCT	ENSP00000506636.1:n.*2426_*2427insATTCGGGTCTCT
ENST00000681298.1:n.1630_1631insATTCGGGTCTCT
ENST00000681454.1:c.*4053_*4054insATTCGGGTCTCT	ENSP00000505763.1:n.*4053_*4054insATTCGGGTCTCT
ENST00000277541.6:c.4817_4818insATTCGGGTCTCT	ENSP00000277541.6:p.Phe1606delinsLeuPheGlySerLeu
NM_017617.3:c.4817_4818insATTCGGGTCTCT	NP_060087.3:p.Phe1606delinsLeuPheGlySerLeu
XM_011518717.1:c.4118_4119insATTCGGGTCTCT	XP_011517019.1:p.Phe1373delinsLeuPheGlySerLeu
NM_017617.5:c.4817_4818insATTCGGGTCTCT MANE Select	NP_060087.3:p.Phe1606delinsLeuPheGlySerLeu
XM_011518717.2:c.4094_4095insATTCGGGTCTCT	XP_011517019.2:p.Phe1365delinsLeuPheGlySerLeu