Canonical Allele Identifier: CA645543439

Gene: NOTCH1

Linked Data

• COSMIC: COSM21880

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504902_136504903insTCC , CM000671.2:g.136504902_136504903insTCC	GRCh38
NC_000009.11:g.139399354_139399355insTCC , CM000671.1:g.139399354_139399355insTCC	GRCh37
NC_000009.10:g.138519175_138519176insTCC	NCBI36
NG_007458.1:g.45884_45885insGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2595_2596insGGA
ENST00000651671.1:c.4788_4789insGGA MANE Select	ENSP00000498587.1:p.Leu1596_Ser1597insGly
ENST00000679595.1:c.4788_4789insGGA	ENSP00000506241.1:p.Leu1596_Ser1597insGly
ENST00000680133.1:c.4674_4675insGGA	ENSP00000505319.1:p.Leu1558_Ser1559insGly
ENST00000680218.1:c.4668_4669insGGA	ENSP00000505339.1:p.Leu1556_Ser1557insGly
ENST00000680668.1:c.4674_4675insGGA	ENSP00000506336.1:p.Leu1558_Ser1559insGly
ENST00000680778.1:c.2385_2386insGGA	ENSP00000506033.1:p.Leu795_Ser796insGly
ENST00000680924.1:c.*2188_*2189insGGA	ENSP00000506031.1:n.*2188_*2189insGGA
ENST00000681135.1:c.*2397_*2398insGGA	ENSP00000506636.1:n.*2397_*2398insGGA
ENST00000681298.1:n.1601_1602insGGA
ENST00000681454.1:c.*4024_*4025insGGA	ENSP00000505763.1:n.*4024_*4025insGGA
ENST00000277541.6:c.4788_4789insGGA	ENSP00000277541.6:p.Leu1596_Ser1597insGly
NM_017617.3:c.4788_4789insGGA	NP_060087.3:p.Leu1596_Ser1597insGly
XM_011518717.1:c.4089_4090insGGA	XP_011517019.1:p.Leu1363_Ser1364insGly
NM_017617.5:c.4788_4789insGGA MANE Select	NP_060087.3:p.Leu1596_Ser1597insGly
XM_011518717.2:c.4065_4066insGGA	XP_011517019.2:p.Leu1355_Ser1356insGly