Canonical Allele Identifier: CA645562533

Gene: NOTCH1

Linked Data

• COSMIC: COSM304192 ; COSM304193

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517832_136517834del , CM000671.2:g.136517832_136517834del	GRCh38
NC_000009.11:g.139412284_139412286del , CM000671.1:g.139412284_139412286del	GRCh37
NC_000009.10:g.138532105_138532107del	NCBI36
NG_007458.1:g.32954_32956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1360_1362del MANE Select	ENSP00000498587.1:p.Asn454del
ENST00000679595.1:c.1360_1362del	ENSP00000506241.1:p.Asn454del
ENST00000680133.1:c.1360_1362del	ENSP00000505319.1:p.Asn454del
ENST00000680218.1:c.1360_1362del	ENSP00000505339.1:p.Asn454del
ENST00000680668.1:c.1360_1362del	ENSP00000506336.1:p.Asn454del
ENST00000680924.1:c.1360_1362del	ENSP00000506031.1:p.Asn454del
ENST00000681135.1:c.1360_1362del	ENSP00000506636.1:p.Asn454del
ENST00000681454.1:c.*596_*598del	ENSP00000505763.1:n.*596_*598del
ENST00000277541.6:c.1360_1362del	ENSP00000277541.6:p.Asn454del
NM_017617.3:c.1360_1362del	NP_060087.3:p.Asn454del
XM_011518717.1:c.661_663del	XP_011517019.1:p.Asn221del
NM_017617.5:c.1360_1362del MANE Select	NP_060087.3:p.Asn454del
XM_011518717.2:c.637_639del	XP_011517019.2:p.Asn213del