Canonical Allele Identifier: CA645543481

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337023
• COSMIC: COSM5751732 ; COSM5751733

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504937_136504938insT , CM000671.2:g.136504937_136504938insT	GRCh38
NC_000009.11:g.139399389_139399390insT , CM000671.1:g.139399389_139399390insT	GRCh37
NC_000009.10:g.138519210_138519211insT	NCBI36
NG_007458.1:g.45849_45850insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2560_2561insA
ENST00000651671.1:c.4753_4754insA MANE Select	ENSP00000498587.1:p.Leu1585HisfsTer25
ENST00000679595.1:c.4753_4754insA	ENSP00000506241.1:p.Leu1585HisfsTer25
ENST00000680133.1:c.4639_4640insA	ENSP00000505319.1:p.Leu1547HisfsTer25
ENST00000680218.1:c.4633_4634insA	ENSP00000505339.1:p.Leu1545HisfsTer25
ENST00000680668.1:c.4639_4640insA	ENSP00000506336.1:p.Leu1547HisfsTer25
ENST00000680778.1:c.2350_2351insA	ENSP00000506033.1:p.Leu784HisfsTer25
ENST00000680924.1:c.*2153_*2154insA	ENSP00000506031.1:n.*2153_*2154insA
ENST00000681135.1:c.*2362_*2363insA	ENSP00000506636.1:n.*2362_*2363insA
ENST00000681298.1:n.1566_1567insA
ENST00000681454.1:c.*3989_*3990insA	ENSP00000505763.1:n.*3989_*3990insA
ENST00000277541.6:c.4753_4754insA	ENSP00000277541.6:p.Leu1585HisfsTer25
NM_017617.3:c.4753_4754insA	NP_060087.3:p.Leu1585HisfsTer25
XM_011518717.1:c.4054_4055insA	XP_011517019.1:p.Leu1352HisfsTer25
NM_017617.5:c.4753_4754insA MANE Select	NP_060087.3:p.Leu1585HisfsTer25
XM_011518717.2:c.4030_4031insA	XP_011517019.2:p.Leu1344HisfsTer25