Canonical Allele Identifier: CA122443

Gene: NOTCH1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505384del , CM000671.2:g.136505384del	GRCh38
NC_000009.11:g.139399836del , CM000671.1:g.139399836del	GRCh37
NC_000009.10:g.138519657del	NCBI36
NG_007458.1:g.45403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2319del
ENST00000651671.1:c.4512del MANE Select	ENSP00000498587.1:p.Cys1505ValfsTer?
ENST00000679595.1:c.4512del	ENSP00000506241.1:p.Cys1505ValfsTer?
ENST00000680133.1:c.4398del	ENSP00000505319.1:p.Cys1467ValfsTer?
ENST00000680218.1:c.4392del	ENSP00000505339.1:p.Cys1465ValfsTer?
ENST00000680668.1:c.4398del	ENSP00000506336.1:p.Cys1467ValfsTer?
ENST00000680778.1:c.2109del	ENSP00000506033.1:p.Cys704ValfsTer?
ENST00000680924.1:c.*1912del	ENSP00000506031.1:n.*1912del
ENST00000681135.1:c.*2121del	ENSP00000506636.1:n.*2121del
ENST00000681298.1:n.1325del
ENST00000681454.1:c.*3748del	ENSP00000505763.1:n.*3748del
ENST00000277541.6:c.4512del	ENSP00000277541.6:p.Cys1505ValfsTer?
NM_017617.3:c.4512del	NP_060087.3:p.Cys1505ValfsTer?
XM_011518717.1:c.3813del	XP_011517019.1:p.Cys1272ValfsTer?
NM_017617.5:c.4512del MANE Select	NP_060087.3:p.Cys1505ValfsTer?
XM_011518717.2:c.3789del	XP_011517019.2:p.Cys1264ValfsTer?