Canonical Allele Identifier: CA645543441

Gene: NOTCH1

Linked Data

• COSMIC: COSM21889

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504907_136504923delinsCCCCCCAGAAG , CM000671.2:g.136504907_136504923delinsCCCCCCAGAAG	GRCh38
NC_000009.11:g.139399359_139399375delinsCCCCCCAGAAG , CM000671.1:g.139399359_139399375delinsCCCCCCAGAAG	GRCh37
NC_000009.10:g.138519180_138519196delinsCCCCCCAGAAG	NCBI36
NG_007458.1:g.45864_45880delinsCTTCTGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2575_2591delinsCTTCTGGGGGG
ENST00000651671.1:c.4768_4784delinsCTTCTGGGGGG MANE Select	ENSP00000498587.1:p.Phe1590_Glu1595delinsLeuLeuGlyGly
ENST00000679595.1:c.4768_4784delinsCTTCTGGGGGG	ENSP00000506241.1:p.Phe1590_Glu1595delinsLeuLeuGlyGly
ENST00000680133.1:c.4654_4670delinsCTTCTGGGGGG	ENSP00000505319.1:p.Phe1552_Glu1557delinsLeuLeuGlyGly
ENST00000680218.1:c.4648_4664delinsCTTCTGGGGGG	ENSP00000505339.1:p.Phe1550_Glu1555delinsLeuLeuGlyGly
ENST00000680668.1:c.4654_4670delinsCTTCTGGGGGG	ENSP00000506336.1:p.Phe1552_Glu1557delinsLeuLeuGlyGly
ENST00000680778.1:c.2365_2381delinsCTTCTGGGGGG	ENSP00000506033.1:p.Phe789_Glu794delinsLeuLeuGlyGly
ENST00000680924.1:c.*2168_*2184delinsCTTCTGGGGGG	ENSP00000506031.1:n.*2168_*2184delinsCTTCTGGGGGG
ENST00000681135.1:c.*2377_*2393delinsCTTCTGGGGGG	ENSP00000506636.1:n.*2377_*2393delinsCTTCTGGGGGG
ENST00000681298.1:n.1581_1597delinsCTTCTGGGGGG
ENST00000681454.1:c.*4004_*4020delinsCTTCTGGGGGG	ENSP00000505763.1:n.*4004_*4020delinsCTTCTGGGGGG
ENST00000277541.6:c.4768_4784delinsCTTCTGGGGGG	ENSP00000277541.6:p.Phe1590_Glu1595delinsLeuLeuGlyGly
NM_017617.3:c.4768_4784delinsCTTCTGGGGGG	NP_060087.3:p.Phe1590_Glu1595delinsLeuLeuGlyGly
XM_011518717.1:c.4069_4085delinsCTTCTGGGGGG	XP_011517019.1:p.Phe1357_Glu1362delinsLeuLeuGlyGly
NM_017617.5:c.4768_4784delinsCTTCTGGGGGG MANE Select	NP_060087.3:p.Phe1590_Glu1595delinsLeuLeuGlyGly
XM_011518717.2:c.4045_4061delinsCTTCTGGGGGG	XP_011517019.2:p.Phe1349_Glu1354delinsLeuLeuGlyGly