Canonical Allele Identifier: CA645543408

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336604
• COSMIC: COSM28548

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504873_136504874insGAACCG , CM000671.2:g.136504873_136504874insGAACCG	GRCh38
NC_000009.11:g.139399325_139399326insGAACCG , CM000671.1:g.139399325_139399326insGAACCG	GRCh37
NC_000009.10:g.138519146_138519147insGAACCG	NCBI36
NG_007458.1:g.45914_45915insGGTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2625_2626insGGTTCC
ENST00000651671.1:c.4818_4819insGGTTCC MANE Select	ENSP00000498587.1:p.Phe1606_Lys1607insGlySer
ENST00000679595.1:c.4818_4819insGGTTCC	ENSP00000506241.1:p.Phe1606_Lys1607insGlySer
ENST00000680133.1:c.4704_4705insGGTTCC	ENSP00000505319.1:p.Phe1568_Lys1569insGlySer
ENST00000680218.1:c.4698_4699insGGTTCC	ENSP00000505339.1:p.Phe1566_Lys1567insGlySer
ENST00000680668.1:c.4704_4705insGGTTCC	ENSP00000506336.1:p.Phe1568_Lys1569insGlySer
ENST00000680778.1:c.2415_2416insGGTTCC	ENSP00000506033.1:p.Phe805_Lys806insGlySer
ENST00000680924.1:c.*2218_*2219insGGTTCC	ENSP00000506031.1:n.*2218_*2219insGGTTCC
ENST00000681135.1:c.*2427_*2428insGGTTCC	ENSP00000506636.1:n.*2427_*2428insGGTTCC
ENST00000681298.1:n.1631_1632insGGTTCC
ENST00000681454.1:c.*4054_*4055insGGTTCC	ENSP00000505763.1:n.*4054_*4055insGGTTCC
ENST00000277541.6:c.4818_4819insGGTTCC	ENSP00000277541.6:p.Phe1606_Lys1607insGlySer
NM_017617.3:c.4818_4819insGGTTCC	NP_060087.3:p.Phe1606_Lys1607insGlySer
XM_011518717.1:c.4119_4120insGGTTCC	XP_011517019.1:p.Phe1373_Lys1374insGlySer
NM_017617.5:c.4818_4819insGGTTCC MANE Select	NP_060087.3:p.Phe1606_Lys1607insGlySer
XM_011518717.2:c.4095_4096insGGTTCC	XP_011517019.2:p.Phe1365_Lys1366insGlySer