Canonical Allele Identifier: CA645543393

Gene: NOTCH1

Linked Data

• COSMIC: COSM5546611

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504870_136504875delinsTTTATTCCCCTTGCGACGGGG , CM000671.2:g.136504870_136504875delinsTTTATTCCCCTTGCGACGGGG	GRCh38
NC_000009.11:g.139399322_139399327delinsTTTATTCCCCTTGCGACGGGG , CM000671.1:g.139399322_139399327delinsTTTATTCCCCTTGCGACGGGG	GRCh37
NC_000009.10:g.138519143_138519148delinsTTTATTCCCCTTGCGACGGGG	NCBI36
NG_007458.1:g.45912_45917delinsCCCCGTCGCAAGGGGAATAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2623_2628delinsCCCCGTCGCAAGGGGAATAAA
ENST00000651671.1:c.4816_4821delinsCCCCGTCGCAAGGGGAATAAA MANE Select	ENSP00000498587.1:p.Phe1606delinsProArgArgLysGlyAsn
ENST00000679595.1:c.4816_4821delinsCCCCGTCGCAAGGGGAATAAA	ENSP00000506241.1:p.Phe1606delinsProArgArgLysGlyAsn
ENST00000680133.1:c.4702_4707delinsCCCCGTCGCAAGGGGAATAAA	ENSP00000505319.1:p.Phe1568delinsProArgArgLysGlyAsn
ENST00000680218.1:c.4696_4701delinsCCCCGTCGCAAGGGGAATAAA	ENSP00000505339.1:p.Phe1566delinsProArgArgLysGlyAsn
ENST00000680668.1:c.4702_4707delinsCCCCGTCGCAAGGGGAATAAA	ENSP00000506336.1:p.Phe1568delinsProArgArgLysGlyAsn
ENST00000680778.1:c.2413_2418delinsCCCCGTCGCAAGGGGAATAAA	ENSP00000506033.1:p.Phe805delinsProArgArgLysGlyAsn
ENST00000680924.1:c.*2216_*2221delinsCCCCGTCGCAAGGGGAATAAA	ENSP00000506031.1:n.*2216_*2221delinsCCCCGTCGCAAGGGGAATAAA
ENST00000681135.1:c.*2425_*2430delinsCCCCGTCGCAAGGGGAATAAA	ENSP00000506636.1:n.*2425_*2430delinsCCCCGTCGCAAGGGGAATAAA
ENST00000681298.1:n.1629_1634delinsCCCCGTCGCAAGGGGAATAAA
ENST00000681454.1:c.*4052_*4057delinsCCCCGTCGCAAGGGGAATAAA	ENSP00000505763.1:n.*4052_*4057delinsCCCCGTCGCAAGGGGAATAAA
ENST00000277541.6:c.4816_4821delinsCCCCGTCGCAAGGGGAATAAA	ENSP00000277541.6:p.Phe1606delinsProArgArgLysGlyAsn
NM_017617.3:c.4816_4821delinsCCCCGTCGCAAGGGGAATAAA	NP_060087.3:p.Phe1606delinsProArgArgLysGlyAsn
XM_011518717.1:c.4117_4122delinsCCCCGTCGCAAGGGGAATAAA	XP_011517019.1:p.Phe1373delinsProArgArgLysGlyAsn
NM_017617.5:c.4816_4821delinsCCCCGTCGCAAGGGGAATAAA MANE Select	NP_060087.3:p.Phe1606delinsProArgArgLysGlyAsn
XM_011518717.2:c.4093_4098delinsCCCCGTCGCAAGGGGAATAAA	XP_011517019.2:p.Phe1365delinsProArgArgLysGlyAsn