Canonical Allele Identifier: CA645543442

Gene: NOTCH1

Linked Data

• COSMIC: COSM5751452 ; COSM5751453

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504910dup , CM000671.2:g.136504910dup	GRCh38
NC_000009.11:g.139399362dup , CM000671.1:g.139399362dup	GRCh37
NC_000009.10:g.138519183dup	NCBI36
NG_007458.1:g.45879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2590dup
ENST00000651671.1:c.4783dup MANE Select	ENSP00000498587.1:p.Glu1595GlyfsTer15
ENST00000679595.1:c.4783dup	ENSP00000506241.1:p.Glu1595GlyfsTer15
ENST00000680133.1:c.4669dup	ENSP00000505319.1:p.Glu1557GlyfsTer15
ENST00000680218.1:c.4663dup	ENSP00000505339.1:p.Glu1555GlyfsTer15
ENST00000680668.1:c.4669dup	ENSP00000506336.1:p.Glu1557GlyfsTer15
ENST00000680778.1:c.2380dup	ENSP00000506033.1:p.Glu794GlyfsTer15
ENST00000680924.1:c.*2183dup	ENSP00000506031.1:n.*2183dup
ENST00000681135.1:c.*2392dup	ENSP00000506636.1:n.*2392dup
ENST00000681298.1:n.1596dup
ENST00000681454.1:c.*4019dup	ENSP00000505763.1:n.*4019dup
ENST00000277541.6:c.4783dup	ENSP00000277541.6:p.Glu1595GlyfsTer15
NM_017617.3:c.4783dup	NP_060087.3:p.Glu1595GlyfsTer15
XM_011518717.1:c.4084dup	XP_011517019.1:p.Glu1362GlyfsTer15
NM_017617.5:c.4783dup MANE Select	NP_060087.3:p.Glu1595GlyfsTer15
XM_011518717.2:c.4060dup	XP_011517019.2:p.Glu1354GlyfsTer15