Canonical Allele Identifier: CA645543387

Gene: NOTCH1

Linked Data

• COSMIC: COSM5751255 ; COSM5751256

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504845dup , CM000671.2:g.136504845dup	GRCh38
NC_000009.11:g.139399297dup , CM000671.1:g.139399297dup	GRCh37
NC_000009.10:g.138519118dup	NCBI36
NG_007458.1:g.45942dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2653dup
ENST00000651671.1:c.4846dup MANE Select	ENSP00000498587.1:p.Ile1616AsnfsTer27
ENST00000679595.1:c.4846dup	ENSP00000506241.1:p.Ile1616AsnfsTer27
ENST00000680133.1:c.4732dup	ENSP00000505319.1:p.Ile1578AsnfsTer27
ENST00000680218.1:c.4726dup	ENSP00000505339.1:p.Ile1576AsnfsTer27
ENST00000680668.1:c.4732dup	ENSP00000506336.1:p.Ile1578AsnfsTer27
ENST00000680778.1:c.2443dup	ENSP00000506033.1:p.Ile815AsnfsTer27
ENST00000680924.1:c.*2246dup	ENSP00000506031.1:n.*2246dup
ENST00000681135.1:c.*2455dup	ENSP00000506636.1:n.*2455dup
ENST00000681298.1:n.1659dup
ENST00000681454.1:c.*4082dup	ENSP00000505763.1:n.*4082dup
ENST00000277541.6:c.4846dup	ENSP00000277541.6:p.Ile1616AsnfsTer27
ENST00000494783.1:n.1dup
NM_017617.3:c.4846dup	NP_060087.3:p.Ile1616AsnfsTer27
XM_011518717.1:c.4147dup	XP_011517019.1:p.Ile1383AsnfsTer27
NM_017617.5:c.4846dup MANE Select	NP_060087.3:p.Ile1616AsnfsTer27
XM_011518717.2:c.4123dup	XP_011517019.2:p.Ile1375AsnfsTer27