Canonical Allele Identifier: CA645543476

Gene: NOTCH1

Linked Data

• COSMIC: COSM27927

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504922_136504923insTGG , CM000671.2:g.136504922_136504923insTGG	GRCh38
NC_000009.11:g.139399374_139399375insTGG , CM000671.1:g.139399374_139399375insTGG	GRCh37
NC_000009.10:g.138519195_138519196insTGG	NCBI36
NG_007458.1:g.45864_45865insCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2575_2576insCCA
ENST00000651671.1:c.4768_4769insCCA MANE Select	ENSP00000498587.1:p.Phe1590delinsSerIle
ENST00000679595.1:c.4768_4769insCCA	ENSP00000506241.1:p.Phe1590delinsSerIle
ENST00000680133.1:c.4654_4655insCCA	ENSP00000505319.1:p.Phe1552delinsSerIle
ENST00000680218.1:c.4648_4649insCCA	ENSP00000505339.1:p.Phe1550delinsSerIle
ENST00000680668.1:c.4654_4655insCCA	ENSP00000506336.1:p.Phe1552delinsSerIle
ENST00000680778.1:c.2365_2366insCCA	ENSP00000506033.1:p.Phe789delinsSerIle
ENST00000680924.1:c.*2168_*2169insCCA	ENSP00000506031.1:n.*2168_*2169insCCA
ENST00000681135.1:c.*2377_*2378insCCA	ENSP00000506636.1:n.*2377_*2378insCCA
ENST00000681298.1:n.1581_1582insCCA
ENST00000681454.1:c.*4004_*4005insCCA	ENSP00000505763.1:n.*4004_*4005insCCA
ENST00000277541.6:c.4768_4769insCCA	ENSP00000277541.6:p.Phe1590delinsSerIle
NM_017617.3:c.4768_4769insCCA	NP_060087.3:p.Phe1590delinsSerIle
XM_011518717.1:c.4069_4070insCCA	XP_011517019.1:p.Phe1357delinsSerIle
NM_017617.5:c.4768_4769insCCA MANE Select	NP_060087.3:p.Phe1590delinsSerIle
XM_011518717.2:c.4045_4046insCCA	XP_011517019.2:p.Phe1349delinsSerIle