Canonical Allele Identifier: CA645543405

Gene: NOTCH1

Linked Data

• COSMIC: COSM4775176 ; COSM4775177

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504873_136504876del , CM000671.2:g.136504873_136504876del	GRCh38
NC_000009.11:g.139399325_139399328del , CM000671.1:g.139399325_139399328del	GRCh37
NC_000009.10:g.138519146_138519149del	NCBI36
NG_007458.1:g.45911_45914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2622_2625del
ENST00000651671.1:c.4815_4818del MANE Select	ENSP00000498587.1:p.Phe1606SerfsTer9
ENST00000679595.1:c.4815_4818del	ENSP00000506241.1:p.Phe1606SerfsTer9
ENST00000680133.1:c.4701_4704del	ENSP00000505319.1:p.Phe1568SerfsTer9
ENST00000680218.1:c.4695_4698del	ENSP00000505339.1:p.Phe1566SerfsTer9
ENST00000680668.1:c.4701_4704del	ENSP00000506336.1:p.Phe1568SerfsTer9
ENST00000680778.1:c.2412_2415del	ENSP00000506033.1:p.Phe805SerfsTer9
ENST00000680924.1:c.*2215_*2218del	ENSP00000506031.1:n.*2215_*2218del
ENST00000681135.1:c.*2424_*2427del	ENSP00000506636.1:n.*2424_*2427del
ENST00000681298.1:n.1628_1631del
ENST00000681454.1:c.*4051_*4054del	ENSP00000505763.1:n.*4051_*4054del
ENST00000277541.6:c.4815_4818del	ENSP00000277541.6:p.Phe1606SerfsTer9
NM_017617.3:c.4815_4818del	NP_060087.3:p.Phe1606SerfsTer9
XM_011518717.1:c.4116_4119del	XP_011517019.1:p.Phe1373SerfsTer9
NM_017617.5:c.4815_4818del MANE Select	NP_060087.3:p.Phe1606SerfsTer9
XM_011518717.2:c.4092_4095del	XP_011517019.2:p.Phe1365SerfsTer9