Canonical Allele Identifier: CA645544340

Gene: NOTCH1

Linked Data

• COSMIC: COSM255089

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136496870_136497204del , CM000671.2:g.136496870_136497204del	GRCh38
NC_000009.11:g.139391322_139391656del , CM000671.1:g.139391322_139391656del	GRCh37
NC_000009.10:g.138511143_138511477del	NCBI36
NG_007458.1:g.53589_53923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6541_6875del MANE Select	ENSP00000498587.1:p.Lys2181GlyfsTer?
ENST00000679595.1:c.*1581_*1915del	ENSP00000506241.1:n.*1581_*1915del
ENST00000679969.1:n.3137_3471del
ENST00000680003.1:n.2873_3207del
ENST00000680133.1:c.6427_6761del	ENSP00000505319.1:p.Lys2143GlyfsTer?
ENST00000680218.1:c.6421_6755del	ENSP00000505339.1:p.Lys2141GlyfsTer?
ENST00000680668.1:c.6427_6761del	ENSP00000506336.1:p.Lys2143GlyfsTer?
ENST00000680778.1:c.4138_4472del	ENSP00000506033.1:p.Lys1380GlyfsTer?
ENST00000680924.1:c.*3941_*4275del	ENSP00000506031.1:n.*3941_*4275del
ENST00000681135.1:c.*4150_*4484del	ENSP00000506636.1:n.*4150_*4484del
ENST00000681298.1:n.4646_4980del
ENST00000681454.1:c.*5777_*6111del	ENSP00000505763.1:n.*5777_*6111del
ENST00000277541.6:c.6541_6875del	ENSP00000277541.6:p.Lys2181GlyfsTer?
NM_017617.3:c.6541_6875del	NP_060087.3:p.Lys2181GlyfsTer?
XM_011518717.1:c.5842_6176del	XP_011517019.1:p.Lys1948GlyfsTer?
NM_017617.5:c.6541_6875del MANE Select	NP_060087.3:p.Lys2181GlyfsTer?
XM_011518717.2:c.5818_6152del	XP_011517019.2:p.Lys1940GlyfsTer?