Canonical Allele Identifier: CA645562531

Gene: NOTCH1

Linked Data

• COSMIC: COSM5434492 ; COSM5434493

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517771del , CM000671.2:g.136517771del	GRCh38
NC_000009.11:g.139412223del , CM000671.1:g.139412223del	GRCh37
NC_000009.10:g.138532044del	NCBI36
NG_007458.1:g.33017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1423del MANE Select	ENSP00000498587.1:p.Gln475SerfsTer?
ENST00000679595.1:c.1423del	ENSP00000506241.1:p.Gln475SerfsTer?
ENST00000680133.1:c.1423del	ENSP00000505319.1:p.Gln475SerfsTer?
ENST00000680218.1:c.1423del	ENSP00000505339.1:p.Gln475SerfsTer?
ENST00000680668.1:c.1423del	ENSP00000506336.1:p.Gln475SerfsTer?
ENST00000680924.1:c.1423del	ENSP00000506031.1:p.Gln475SerfsTer?
ENST00000681135.1:c.1423del	ENSP00000506636.1:p.Gln475SerfsTer?
ENST00000681454.1:c.*659del	ENSP00000505763.1:n.*659del
ENST00000277541.6:c.1423del	ENSP00000277541.6:p.Gln475SerfsTer?
NM_017617.3:c.1423del	NP_060087.3:p.Gln475SerfsTer?
XM_011518717.1:c.724del	XP_011517019.1:p.Gln242SerfsTer?
NM_017617.5:c.1423del MANE Select	NP_060087.3:p.Gln475SerfsTer?
XM_011518717.2:c.700del	XP_011517019.2:p.Gln234SerfsTer?