Canonical Allele Identifier: CA645543395

Gene: NOTCH1

Linked Data

• COSMIC: COSM4775031 ; COSM4775032

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504870dup , CM000671.2:g.136504870dup	GRCh38
NC_000009.11:g.139399322dup , CM000671.1:g.139399322dup	GRCh37
NC_000009.10:g.138519143dup	NCBI36
NG_007458.1:g.45917dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2628dup
ENST00000651671.1:c.4821dup MANE Select	ENSP00000498587.1:p.Arg1608AlafsTer2
ENST00000679595.1:c.4821dup	ENSP00000506241.1:p.Arg1608AlafsTer2
ENST00000680133.1:c.4707dup	ENSP00000505319.1:p.Arg1570AlafsTer2
ENST00000680218.1:c.4701dup	ENSP00000505339.1:p.Arg1568AlafsTer2
ENST00000680668.1:c.4707dup	ENSP00000506336.1:p.Arg1570AlafsTer2
ENST00000680778.1:c.2418dup	ENSP00000506033.1:p.Arg807AlafsTer2
ENST00000680924.1:c.*2221dup	ENSP00000506031.1:n.*2221dup
ENST00000681135.1:c.*2430dup	ENSP00000506636.1:n.*2430dup
ENST00000681298.1:n.1634dup
ENST00000681454.1:c.*4057dup	ENSP00000505763.1:n.*4057dup
ENST00000277541.6:c.4821dup	ENSP00000277541.6:p.Arg1608AlafsTer2
NM_017617.3:c.4821dup	NP_060087.3:p.Arg1608AlafsTer2
XM_011518717.1:c.4122dup	XP_011517019.1:p.Arg1375AlafsTer2
NM_017617.5:c.4821dup MANE Select	NP_060087.3:p.Arg1608AlafsTer2
XM_011518717.2:c.4098dup	XP_011517019.2:p.Arg1367AlafsTer2