Canonical Allele Identifier: CA645543480

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337028
• COSMIC: COSM5751166 ; COSM5751167

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504938dup , CM000671.2:g.136504938dup	GRCh38
NC_000009.11:g.139399390dup , CM000671.1:g.139399390dup	GRCh37
NC_000009.10:g.138519211dup	NCBI36
NG_007458.1:g.45849dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2560dup
ENST00000651671.1:c.4753dup MANE Select	ENSP00000498587.1:p.Leu1585ProfsTer25
ENST00000679595.1:c.4753dup	ENSP00000506241.1:p.Leu1585ProfsTer25
ENST00000680133.1:c.4639dup	ENSP00000505319.1:p.Leu1547ProfsTer25
ENST00000680218.1:c.4633dup	ENSP00000505339.1:p.Leu1545ProfsTer25
ENST00000680668.1:c.4639dup	ENSP00000506336.1:p.Leu1547ProfsTer25
ENST00000680778.1:c.2350dup	ENSP00000506033.1:p.Leu784ProfsTer25
ENST00000680924.1:c.*2153dup	ENSP00000506031.1:n.*2153dup
ENST00000681135.1:c.*2362dup	ENSP00000506636.1:n.*2362dup
ENST00000681298.1:n.1566dup
ENST00000681454.1:c.*3989dup	ENSP00000505763.1:n.*3989dup
ENST00000277541.6:c.4753dup	ENSP00000277541.6:p.Leu1585ProfsTer25
NM_017617.3:c.4753dup	NP_060087.3:p.Leu1585ProfsTer25
XM_011518717.1:c.4054dup	XP_011517019.1:p.Leu1352ProfsTer25
NM_017617.5:c.4753dup MANE Select	NP_060087.3:p.Leu1585ProfsTer25
XM_011518717.2:c.4030dup	XP_011517019.2:p.Leu1344ProfsTer25