Canonical Allele Identifier: CA645543372

Gene: NOTCH1

Linked Data

• COSMIC: COSM308604

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504750_136504785del , CM000671.2:g.136504750_136504785del	GRCh38
NC_000009.11:g.139399202_139399237del , CM000671.1:g.139399202_139399237del	GRCh37
NC_000009.10:g.138519023_138519058del	NCBI36
NG_007458.1:g.46003_46038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2714_2749del
ENST00000651671.1:c.4907_4942del MANE Select	ENSP00000498587.1:p.Glu1636_Gln1647del
ENST00000679595.1:c.4907_4942del	ENSP00000506241.1:p.Glu1636_Gln1647del
ENST00000680133.1:c.4793_4828del	ENSP00000505319.1:p.Glu1598_Gln1609del
ENST00000680218.1:c.4787_4822del	ENSP00000505339.1:p.Glu1596_Gln1607del
ENST00000680668.1:c.4793_4828del	ENSP00000506336.1:p.Glu1598_Gln1609del
ENST00000680778.1:c.2504_2539del	ENSP00000506033.1:p.Glu835_Gln846del
ENST00000680924.1:c.*2307_*2342del	ENSP00000506031.1:n.*2307_*2342del
ENST00000681135.1:c.*2516_*2551del	ENSP00000506636.1:n.*2516_*2551del
ENST00000681298.1:n.1720_1755del
ENST00000681454.1:c.*4143_*4178del	ENSP00000505763.1:n.*4143_*4178del
ENST00000277541.6:c.4907_4942del	ENSP00000277541.6:p.Glu1636_Gln1647del
ENST00000494783.1:n.62_97del
NM_017617.3:c.4907_4942del	NP_060087.3:p.Glu1636_Gln1647del
XM_011518717.1:c.4208_4243del	XP_011517019.1:p.Glu1403_Gln1414del
NM_017617.5:c.4907_4942del MANE Select	NP_060087.3:p.Glu1636_Gln1647del
XM_011518717.2:c.4184_4219del	XP_011517019.2:p.Glu1395_Gln1406del