Canonical Allele Identifier: CA645543453

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336884
• COSMIC: COSM614281

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504915delinsTCCCTCC , CM000671.2:g.136504915delinsTCCCTCC	GRCh38
NC_000009.11:g.139399367delinsTCCCTCC , CM000671.1:g.139399367delinsTCCCTCC	GRCh37
NC_000009.10:g.138519188delinsTCCCTCC	NCBI36
NG_007458.1:g.45872delinsGGAGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2583delinsGGAGGGA
ENST00000651671.1:c.4776delinsGGAGGGA MANE Select	ENSP00000498587.1:p.Phe1592delinsLeuGluGly
ENST00000679595.1:c.4776delinsGGAGGGA	ENSP00000506241.1:p.Phe1592delinsLeuGluGly
ENST00000680133.1:c.4662delinsGGAGGGA	ENSP00000505319.1:p.Phe1554delinsLeuGluGly
ENST00000680218.1:c.4656delinsGGAGGGA	ENSP00000505339.1:p.Phe1552delinsLeuGluGly
ENST00000680668.1:c.4662delinsGGAGGGA	ENSP00000506336.1:p.Phe1554delinsLeuGluGly
ENST00000680778.1:c.2373delinsGGAGGGA	ENSP00000506033.1:p.Phe791delinsLeuGluGly
ENST00000680924.1:c.*2176delinsGGAGGGA	ENSP00000506031.1:n.*2176delinsGGAGGGA
ENST00000681135.1:c.*2385delinsGGAGGGA	ENSP00000506636.1:n.*2385delinsGGAGGGA
ENST00000681298.1:n.1589delinsGGAGGGA
ENST00000681454.1:c.*4012delinsGGAGGGA	ENSP00000505763.1:n.*4012delinsGGAGGGA
ENST00000277541.6:c.4776delinsGGAGGGA	ENSP00000277541.6:p.Phe1592delinsLeuGluGly
NM_017617.3:c.4776delinsGGAGGGA	NP_060087.3:p.Phe1592delinsLeuGluGly
XM_011518717.1:c.4077delinsGGAGGGA	XP_011517019.1:p.Phe1359delinsLeuGluGly
NM_017617.5:c.4776delinsGGAGGGA MANE Select	NP_060087.3:p.Phe1592delinsLeuGluGly
XM_011518717.2:c.4053delinsGGAGGGA	XP_011517019.2:p.Phe1351delinsLeuGluGly