Canonical Allele Identifier: CA645543487

Gene: NOTCH1

Linked Data

• COSMIC: COSM614181

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504946_136504951del , CM000671.2:g.136504946_136504951del	GRCh38
NC_000009.11:g.139399398_139399403del , CM000671.1:g.139399398_139399403del	GRCh37
NC_000009.10:g.138519219_138519224del	NCBI36
NG_007458.1:g.45837_45842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2548_2553del
ENST00000651671.1:c.4741_4746del MANE Select	ENSP00000498587.1:p.Pro1581_Pro1582del
ENST00000679595.1:c.4741_4746del	ENSP00000506241.1:p.Pro1581_Pro1582del
ENST00000680133.1:c.4627_4632del	ENSP00000505319.1:p.Pro1543_Pro1544del
ENST00000680218.1:c.4621_4626del	ENSP00000505339.1:p.Pro1541_Pro1542del
ENST00000680668.1:c.4627_4632del	ENSP00000506336.1:p.Pro1543_Pro1544del
ENST00000680778.1:c.2338_2343del	ENSP00000506033.1:p.Pro780_Pro781del
ENST00000680924.1:c.*2141_*2146del	ENSP00000506031.1:n.*2141_*2146del
ENST00000681135.1:c.*2350_*2355del	ENSP00000506636.1:n.*2350_*2355del
ENST00000681298.1:n.1554_1559del
ENST00000681454.1:c.*3977_*3982del	ENSP00000505763.1:n.*3977_*3982del
ENST00000277541.6:c.4741_4746del	ENSP00000277541.6:p.Pro1581_Pro1582del
NM_017617.3:c.4741_4746del	NP_060087.3:p.Pro1581_Pro1582del
XM_011518717.1:c.4042_4047del	XP_011517019.1:p.Pro1348_Pro1349del
NM_017617.5:c.4741_4746del MANE Select	NP_060087.3:p.Pro1581_Pro1582del
XM_011518717.2:c.4018_4023del	XP_011517019.2:p.Pro1340_Pro1341del