Canonical Allele Identifier: CA645543430

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336730
• COSMIC: COSM5752001 ; COSM5752002

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504892_136504893insT , CM000671.2:g.136504892_136504893insT	GRCh38
NC_000009.11:g.139399344_139399345insT , CM000671.1:g.139399344_139399345insT	GRCh37
NC_000009.10:g.138519165_138519166insT	NCBI36
NG_007458.1:g.45894_45895insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2605_2606insA
ENST00000651671.1:c.4798_4799insA MANE Select	ENSP00000498587.1:p.Leu1600HisfsTer10
ENST00000679595.1:c.4798_4799insA	ENSP00000506241.1:p.Leu1600HisfsTer10
ENST00000680133.1:c.4684_4685insA	ENSP00000505319.1:p.Leu1562HisfsTer10
ENST00000680218.1:c.4678_4679insA	ENSP00000505339.1:p.Leu1560HisfsTer10
ENST00000680668.1:c.4684_4685insA	ENSP00000506336.1:p.Leu1562HisfsTer10
ENST00000680778.1:c.2395_2396insA	ENSP00000506033.1:p.Leu799HisfsTer10
ENST00000680924.1:c.*2198_*2199insA	ENSP00000506031.1:n.*2198_*2199insA
ENST00000681135.1:c.*2407_*2408insA	ENSP00000506636.1:n.*2407_*2408insA
ENST00000681298.1:n.1611_1612insA
ENST00000681454.1:c.*4034_*4035insA	ENSP00000505763.1:n.*4034_*4035insA
ENST00000277541.6:c.4798_4799insA	ENSP00000277541.6:p.Leu1600HisfsTer10
NM_017617.3:c.4798_4799insA	NP_060087.3:p.Leu1600HisfsTer10
XM_011518717.1:c.4099_4100insA	XP_011517019.1:p.Leu1367HisfsTer10
NM_017617.5:c.4798_4799insA MANE Select	NP_060087.3:p.Leu1600HisfsTer10
XM_011518717.2:c.4075_4076insA	XP_011517019.2:p.Leu1359HisfsTer10