Canonical Allele Identifier: CA645543478

Gene: NOTCH1

Linked Data

• COSMIC: COSM24885

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504936_136504937delinsAG , CM000671.2:g.136504936_136504937delinsAG	GRCh38
NC_000009.11:g.139399388_139399389delinsAG , CM000671.1:g.139399388_139399389delinsAG	GRCh37
NC_000009.10:g.138519209_138519210delinsAG	NCBI36
NG_007458.1:g.45850_45851delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2561_2562delinsCT
ENST00000651671.1:c.4754_4755delinsCT MANE Select	ENSP00000498587.1:p.Leu1585Pro
ENST00000679595.1:c.4754_4755delinsCT	ENSP00000506241.1:p.Leu1585Pro
ENST00000680133.1:c.4640_4641delinsCT	ENSP00000505319.1:p.Leu1547Pro
ENST00000680218.1:c.4634_4635delinsCT	ENSP00000505339.1:p.Leu1545Pro
ENST00000680668.1:c.4640_4641delinsCT	ENSP00000506336.1:p.Leu1547Pro
ENST00000680778.1:c.2351_2352delinsCT	ENSP00000506033.1:p.Leu784Pro
ENST00000680924.1:c.*2154_*2155delinsCT	ENSP00000506031.1:n.*2154_*2155delinsCT
ENST00000681135.1:c.*2363_*2364delinsCT	ENSP00000506636.1:n.*2363_*2364delinsCT
ENST00000681298.1:n.1567_1568delinsCT
ENST00000681454.1:c.*3990_*3991delinsCT	ENSP00000505763.1:n.*3990_*3991delinsCT
ENST00000277541.6:c.4754_4755delinsCT	ENSP00000277541.6:p.Leu1585Pro
NM_017617.3:c.4754_4755delinsCT	NP_060087.3:p.Leu1585Pro
XM_011518717.1:c.4055_4056delinsCT	XP_011517019.1:p.Leu1352Pro
NM_017617.5:c.4754_4755delinsCT MANE Select	NP_060087.3:p.Leu1585Pro
XM_011518717.2:c.4031_4032delinsCT	XP_011517019.2:p.Leu1344Pro