Canonical Allele Identifier: CA645544350

Gene: NOTCH1

Linked Data

• COSMIC: COSM308535

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497297_136497309del , CM000671.2:g.136497297_136497309del	GRCh38
NC_000009.11:g.139391749_139391761del , CM000671.1:g.139391749_139391761del	GRCh37
NC_000009.10:g.138511570_138511582del	NCBI36
NG_007458.1:g.53479_53491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6431_6443del MANE Select	ENSP00000498587.1:p.Gly2144AlafsTer?
ENST00000679595.1:c.*1471_*1483del	ENSP00000506241.1:n.*1471_*1483del
ENST00000679969.1:n.3027_3039del
ENST00000680003.1:n.2763_2775del
ENST00000680133.1:c.6317_6329del	ENSP00000505319.1:p.Gly2106AlafsTer?
ENST00000680218.1:c.6311_6323del	ENSP00000505339.1:p.Gly2104AlafsTer?
ENST00000680668.1:c.6317_6329del	ENSP00000506336.1:p.Gly2106AlafsTer?
ENST00000680778.1:c.4028_4040del	ENSP00000506033.1:p.Gly1343AlafsTer?
ENST00000680924.1:c.*3831_*3843del	ENSP00000506031.1:n.*3831_*3843del
ENST00000681135.1:c.*4040_*4052del	ENSP00000506636.1:n.*4040_*4052del
ENST00000681298.1:n.4536_4548del
ENST00000681454.1:c.*5667_*5679del	ENSP00000505763.1:n.*5667_*5679del
ENST00000277541.6:c.6431_6443del	ENSP00000277541.6:p.Gly2144AlafsTer?
NM_017617.3:c.6431_6443del	NP_060087.3:p.Gly2144AlafsTer?
XM_011518717.1:c.5732_5744del	XP_011517019.1:p.Gly1911AlafsTer?
NM_017617.5:c.6431_6443del MANE Select	NP_060087.3:p.Gly2144AlafsTer?
XM_011518717.2:c.5708_5720del	XP_011517019.2:p.Gly1903AlafsTer?