Canonical Allele Identifier: CA645543423

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336611
• COSMIC: COSM28767

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504873_136504874insGCGACA , CM000671.2:g.136504873_136504874insGCGACA	GRCh38
NC_000009.11:g.139399325_139399326insGCGACA , CM000671.1:g.139399325_139399326insGCGACA	GRCh37
NC_000009.10:g.138519146_138519147insGCGACA	NCBI36
NG_007458.1:g.45913_45914insTGTCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2624_2625insTGTCGC
ENST00000651671.1:c.4817_4818insTGTCGC MANE Select	ENSP00000498587.1:p.Phe1606_Lys1607insValAla
ENST00000679595.1:c.4817_4818insTGTCGC	ENSP00000506241.1:p.Phe1606_Lys1607insValAla
ENST00000680133.1:c.4703_4704insTGTCGC	ENSP00000505319.1:p.Phe1568_Lys1569insValAla
ENST00000680218.1:c.4697_4698insTGTCGC	ENSP00000505339.1:p.Phe1566_Lys1567insValAla
ENST00000680668.1:c.4703_4704insTGTCGC	ENSP00000506336.1:p.Phe1568_Lys1569insValAla
ENST00000680778.1:c.2414_2415insTGTCGC	ENSP00000506033.1:p.Phe805_Lys806insValAla
ENST00000680924.1:c.*2217_*2218insTGTCGC	ENSP00000506031.1:n.*2217_*2218insTGTCGC
ENST00000681135.1:c.*2426_*2427insTGTCGC	ENSP00000506636.1:n.*2426_*2427insTGTCGC
ENST00000681298.1:n.1630_1631insTGTCGC
ENST00000681454.1:c.*4053_*4054insTGTCGC	ENSP00000505763.1:n.*4053_*4054insTGTCGC
ENST00000277541.6:c.4817_4818insTGTCGC	ENSP00000277541.6:p.Phe1606_Lys1607insValAla
NM_017617.3:c.4817_4818insTGTCGC	NP_060087.3:p.Phe1606_Lys1607insValAla
XM_011518717.1:c.4118_4119insTGTCGC	XP_011517019.1:p.Phe1373_Lys1374insValAla
NM_017617.5:c.4817_4818insTGTCGC MANE Select	NP_060087.3:p.Phe1606_Lys1607insValAla
XM_011518717.2:c.4094_4095insTGTCGC	XP_011517019.2:p.Phe1365_Lys1366insValAla