Canonical Allele Identifier: CA645543479

Gene: NOTCH1

Linked Data

• COSMIC: COSM41300

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504936_136504937insCTGCTTCCGGGG , CM000671.2:g.136504936_136504937insCTGCTTCCGGGG	GRCh38
NC_000009.11:g.139399388_139399389insCTGCTTCCGGGG , CM000671.1:g.139399388_139399389insCTGCTTCCGGGG	GRCh37
NC_000009.10:g.138519209_138519210insCTGCTTCCGGGG	NCBI36
NG_007458.1:g.45850_45851insCCCCGGAAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2561_2562insCCCCGGAAGCAG
ENST00000651671.1:c.4754_4755insCCCCGGAAGCAG MANE Select	ENSP00000498587.1:p.Leu1585_Arg1586insProGlySerArg
ENST00000679595.1:c.4754_4755insCCCCGGAAGCAG	ENSP00000506241.1:p.Leu1585_Arg1586insProGlySerArg
ENST00000680133.1:c.4640_4641insCCCCGGAAGCAG	ENSP00000505319.1:p.Leu1547_Arg1548insProGlySerArg
ENST00000680218.1:c.4634_4635insCCCCGGAAGCAG	ENSP00000505339.1:p.Leu1545_Arg1546insProGlySerArg
ENST00000680668.1:c.4640_4641insCCCCGGAAGCAG	ENSP00000506336.1:p.Leu1547_Arg1548insProGlySerArg
ENST00000680778.1:c.2351_2352insCCCCGGAAGCAG	ENSP00000506033.1:p.Leu784_Arg785insProGlySerArg
ENST00000680924.1:c.*2154_*2155insCCCCGGAAGCAG	ENSP00000506031.1:n.*2154_*2155insCCCCGGAAGCAG
ENST00000681135.1:c.*2363_*2364insCCCCGGAAGCAG	ENSP00000506636.1:n.*2363_*2364insCCCCGGAAGCAG
ENST00000681298.1:n.1567_1568insCCCCGGAAGCAG
ENST00000681454.1:c.*3990_*3991insCCCCGGAAGCAG	ENSP00000505763.1:n.*3990_*3991insCCCCGGAAGCAG
ENST00000277541.6:c.4754_4755insCCCCGGAAGCAG	ENSP00000277541.6:p.Leu1585_Arg1586insProGlySerArg
NM_017617.3:c.4754_4755insCCCCGGAAGCAG	NP_060087.3:p.Leu1585_Arg1586insProGlySerArg
XM_011518717.1:c.4055_4056insCCCCGGAAGCAG	XP_011517019.1:p.Leu1352_Arg1353insProGlySerArg
NM_017617.5:c.4754_4755insCCCCGGAAGCAG MANE Select	NP_060087.3:p.Leu1585_Arg1586insProGlySerArg
XM_011518717.2:c.4031_4032insCCCCGGAAGCAG	XP_011517019.2:p.Leu1344_Arg1345insProGlySerArg