Canonical Allele Identifier: CA467832764

Gene: NOTCH1

Linked Data

• COSMIC: COSM144535
• MyVariant Identifiers: chr9:g.139399367del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504915del , CM000671.2:g.136504915del	GRCh38
NC_000009.11:g.139399367del , CM000671.1:g.139399367del	GRCh37
NC_000009.10:g.138519188del	NCBI36
NG_007458.1:g.45873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2584del
ENST00000651671.1:c.4777del MANE Select	ENSP00000498587.1:p.Leu1593CysfsTer23
ENST00000679595.1:c.4777del	ENSP00000506241.1:p.Leu1593CysfsTer23
ENST00000680133.1:c.4663del	ENSP00000505319.1:p.Leu1555CysfsTer23
ENST00000680218.1:c.4657del	ENSP00000505339.1:p.Leu1553CysfsTer23
ENST00000680668.1:c.4663del	ENSP00000506336.1:p.Leu1555CysfsTer23
ENST00000680778.1:c.2374del	ENSP00000506033.1:p.Leu792CysfsTer23
ENST00000680924.1:c.*2177del	ENSP00000506031.1:n.*2177del
ENST00000681135.1:c.*2386del	ENSP00000506636.1:n.*2386del
ENST00000681298.1:n.1590del
ENST00000681454.1:c.*4013del	ENSP00000505763.1:n.*4013del
ENST00000277541.6:c.4777del	ENSP00000277541.6:p.Leu1593CysfsTer23
NM_017617.3:c.4777del	NP_060087.3:p.Leu1593CysfsTer23
XM_011518717.1:c.4078del	XP_011517019.1:p.Leu1360CysfsTer23
NM_017617.5:c.4777del MANE Select	NP_060087.3:p.Leu1593CysfsTer23
XM_011518717.2:c.4054del	XP_011517019.2:p.Leu1352CysfsTer23