Canonical Allele Identifier: CA645543432

Gene: NOTCH1

Linked Data

• COSMIC: COSM5546619

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504897delinsTCCC , CM000671.2:g.136504897delinsTCCC	GRCh38
NC_000009.11:g.139399349delinsTCCC , CM000671.1:g.139399349delinsTCCC	GRCh37
NC_000009.10:g.138519170delinsTCCC	NCBI36
NG_007458.1:g.45890delinsGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2601delinsGGGA
ENST00000651671.1:c.4794delinsGGGA MANE Select	ENSP00000498587.1:p.Arg1598_Val1599insGly
ENST00000679595.1:c.4794delinsGGGA	ENSP00000506241.1:p.Arg1598_Val1599insGly
ENST00000680133.1:c.4680delinsGGGA	ENSP00000505319.1:p.Arg1560_Val1561insGly
ENST00000680218.1:c.4674delinsGGGA	ENSP00000505339.1:p.Arg1558_Val1559insGly
ENST00000680668.1:c.4680delinsGGGA	ENSP00000506336.1:p.Arg1560_Val1561insGly
ENST00000680778.1:c.2391delinsGGGA	ENSP00000506033.1:p.Arg797_Val798insGly
ENST00000680924.1:c.*2194delinsGGGA	ENSP00000506031.1:n.*2194delinsGGGA
ENST00000681135.1:c.*2403delinsGGGA	ENSP00000506636.1:n.*2403delinsGGGA
ENST00000681298.1:n.1607delinsGGGA
ENST00000681454.1:c.*4030delinsGGGA	ENSP00000505763.1:n.*4030delinsGGGA
ENST00000277541.6:c.4794delinsGGGA	ENSP00000277541.6:p.Arg1598_Val1599insGly
NM_017617.3:c.4794delinsGGGA	NP_060087.3:p.Arg1598_Val1599insGly
XM_011518717.1:c.4095delinsGGGA	XP_011517019.1:p.Arg1365_Val1366insGly
NM_017617.5:c.4794delinsGGGA MANE Select	NP_060087.3:p.Arg1598_Val1599insGly
XM_011518717.2:c.4071delinsGGGA	XP_011517019.2:p.Arg1357_Val1358insGly