Canonical Allele Identifier: CA645543389

Gene: NOTCH1

Linked Data

• COSMIC: COSM5880315

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504845_136504846insAGG , CM000671.2:g.136504845_136504846insAGG	GRCh38
NC_000009.11:g.139399297_139399298insAGG , CM000671.1:g.139399297_139399298insAGG	GRCh37
NC_000009.10:g.138519118_138519119insAGG	NCBI36
NG_007458.1:g.45941_45942insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2652_2653insCCT
ENST00000651671.1:c.4845_4846insCCT MANE Select	ENSP00000498587.1:p.Met1615_Ile1616insPro
ENST00000679595.1:c.4845_4846insCCT	ENSP00000506241.1:p.Met1615_Ile1616insPro
ENST00000680133.1:c.4731_4732insCCT	ENSP00000505319.1:p.Met1577_Ile1578insPro
ENST00000680218.1:c.4725_4726insCCT	ENSP00000505339.1:p.Met1575_Ile1576insPro
ENST00000680668.1:c.4731_4732insCCT	ENSP00000506336.1:p.Met1577_Ile1578insPro
ENST00000680778.1:c.2442_2443insCCT	ENSP00000506033.1:p.Met814_Ile815insPro
ENST00000680924.1:c.*2245_*2246insCCT	ENSP00000506031.1:n.*2245_*2246insCCT
ENST00000681135.1:c.*2454_*2455insCCT	ENSP00000506636.1:n.*2454_*2455insCCT
ENST00000681298.1:n.1658_1659insCCT
ENST00000681454.1:c.*4081_*4082insCCT	ENSP00000505763.1:n.*4081_*4082insCCT
ENST00000277541.6:c.4845_4846insCCT	ENSP00000277541.6:p.Met1615_Ile1616insPro
NM_017617.3:c.4845_4846insCCT	NP_060087.3:p.Met1615_Ile1616insPro
XM_011518717.1:c.4146_4147insCCT	XP_011517019.1:p.Met1382_Ile1383insPro
NM_017617.5:c.4845_4846insCCT MANE Select	NP_060087.3:p.Met1615_Ile1616insPro
XM_011518717.2:c.4122_4123insCCT	XP_011517019.2:p.Met1374_Ile1375insPro