Canonical Allele Identifier: CA2721108135

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133368396

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517789del , CM000671.2:g.136517789del	GRCh38
NC_000009.11:g.139412241del , CM000671.1:g.139412241del	GRCh37
NC_000009.10:g.138532062del	NCBI36
NG_007458.1:g.32999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1405del MANE Select	ENSP00000498587.1:p.Asp469ThrfsTer?
ENST00000679595.1:c.1405del	ENSP00000506241.1:p.Asp469ThrfsTer?
ENST00000680133.1:c.1405del	ENSP00000505319.1:p.Asp469ThrfsTer?
ENST00000680218.1:c.1405del	ENSP00000505339.1:p.Asp469ThrfsTer?
ENST00000680668.1:c.1405del	ENSP00000506336.1:p.Asp469ThrfsTer?
ENST00000680924.1:c.1405del	ENSP00000506031.1:p.Asp469ThrfsTer?
ENST00000681135.1:c.1405del	ENSP00000506636.1:p.Asp469ThrfsTer?
ENST00000681454.1:c.*641del	ENSP00000505763.1:n.*641del
ENST00000277541.6:c.1405del	ENSP00000277541.6:p.Asp469ThrfsTer?
NM_017617.3:c.1405del	NP_060087.3:p.Asp469ThrfsTer?
XM_011518717.1:c.706del	XP_011517019.1:p.Asp236ThrfsTer?
NM_017617.5:c.1405del MANE Select	NP_060087.3:p.Asp469ThrfsTer?
XM_011518717.2:c.682del	XP_011517019.2:p.Asp228ThrfsTer?