Canonical Allele Identifier: CA645543375

Gene: NOTCH1

Linked Data

• COSMIC: COSM308621

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504780_136504818del , CM000671.2:g.136504780_136504818del	GRCh38
NC_000009.11:g.139399232_139399270del , CM000671.1:g.139399232_139399270del	GRCh37
NC_000009.10:g.138519053_138519091del	NCBI36
NG_007458.1:g.45969_46007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2680_2718del
ENST00000651671.1:c.4873_4911del MANE Select	ENSP00000498587.1:p.Glu1625_Gly1637del
ENST00000679595.1:c.4873_4911del	ENSP00000506241.1:p.Glu1625_Gly1637del
ENST00000680133.1:c.4759_4797del	ENSP00000505319.1:p.Glu1587_Gly1599del
ENST00000680218.1:c.4753_4791del	ENSP00000505339.1:p.Glu1585_Gly1597del
ENST00000680668.1:c.4759_4797del	ENSP00000506336.1:p.Glu1587_Gly1599del
ENST00000680778.1:c.2470_2508del	ENSP00000506033.1:p.Glu824_Gly836del
ENST00000680924.1:c.*2273_*2311del	ENSP00000506031.1:n.*2273_*2311del
ENST00000681135.1:c.*2482_*2520del	ENSP00000506636.1:n.*2482_*2520del
ENST00000681298.1:n.1686_1724del
ENST00000681454.1:c.*4109_*4147del	ENSP00000505763.1:n.*4109_*4147del
ENST00000277541.6:c.4873_4911del	ENSP00000277541.6:p.Glu1625_Gly1637del
ENST00000494783.1:n.28_66del
NM_017617.3:c.4873_4911del	NP_060087.3:p.Glu1625_Gly1637del
XM_011518717.1:c.4174_4212del	XP_011517019.1:p.Glu1392_Gly1404del
NM_017617.5:c.4873_4911del MANE Select	NP_060087.3:p.Glu1625_Gly1637del
XM_011518717.2:c.4150_4188del	XP_011517019.2:p.Glu1384_Gly1396del