Canonical Allele Identifier: CA645543447

Gene: NOTCH1

Linked Data

• COSMIC: COSM5751454 ; COSM5751455

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504913_136504914insT , CM000671.2:g.136504913_136504914insT	GRCh38
NC_000009.11:g.139399365_139399366insT , CM000671.1:g.139399365_139399366insT	GRCh37
NC_000009.10:g.138519186_138519187insT	NCBI36
NG_007458.1:g.45873_45874insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2584_2585insA
ENST00000651671.1:c.4777_4778insA MANE Select	ENSP00000498587.1:p.Leu1593HisfsTer17
ENST00000679595.1:c.4777_4778insA	ENSP00000506241.1:p.Leu1593HisfsTer17
ENST00000680133.1:c.4663_4664insA	ENSP00000505319.1:p.Leu1555HisfsTer17
ENST00000680218.1:c.4657_4658insA	ENSP00000505339.1:p.Leu1553HisfsTer17
ENST00000680668.1:c.4663_4664insA	ENSP00000506336.1:p.Leu1555HisfsTer17
ENST00000680778.1:c.2374_2375insA	ENSP00000506033.1:p.Leu792HisfsTer17
ENST00000680924.1:c.*2177_*2178insA	ENSP00000506031.1:n.*2177_*2178insA
ENST00000681135.1:c.*2386_*2387insA	ENSP00000506636.1:n.*2386_*2387insA
ENST00000681298.1:n.1590_1591insA
ENST00000681454.1:c.*4013_*4014insA	ENSP00000505763.1:n.*4013_*4014insA
ENST00000277541.6:c.4777_4778insA	ENSP00000277541.6:p.Leu1593HisfsTer17
NM_017617.3:c.4777_4778insA	NP_060087.3:p.Leu1593HisfsTer17
XM_011518717.1:c.4078_4079insA	XP_011517019.1:p.Leu1360HisfsTer17
NM_017617.5:c.4777_4778insA MANE Select	NP_060087.3:p.Leu1593HisfsTer17
XM_011518717.2:c.4054_4055insA	XP_011517019.2:p.Leu1352HisfsTer17