Canonical Allele Identifier: CA2692634252

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504907-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504910del , CM000671.2:g.136504910del	GRCh38
NC_000009.11:g.139399362del , CM000671.1:g.139399362del	GRCh37
NC_000009.10:g.138519183del	NCBI36
NG_007458.1:g.45879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2590del
ENST00000651671.1:c.4783del MANE Select	ENSP00000498587.1:p.Glu1595SerfsTer21
ENST00000679595.1:c.4783del	ENSP00000506241.1:p.Glu1595SerfsTer21
ENST00000680133.1:c.4669del	ENSP00000505319.1:p.Glu1557SerfsTer21
ENST00000680218.1:c.4663del	ENSP00000505339.1:p.Glu1555SerfsTer21
ENST00000680668.1:c.4669del	ENSP00000506336.1:p.Glu1557SerfsTer21
ENST00000680778.1:c.2380del	ENSP00000506033.1:p.Glu794SerfsTer21
ENST00000680924.1:c.*2183del	ENSP00000506031.1:n.*2183del
ENST00000681135.1:c.*2392del	ENSP00000506636.1:n.*2392del
ENST00000681298.1:n.1596del
ENST00000681454.1:c.*4019del	ENSP00000505763.1:n.*4019del
ENST00000277541.6:c.4783del	ENSP00000277541.6:p.Glu1595SerfsTer21
NM_017617.3:c.4783del	NP_060087.3:p.Glu1595SerfsTer21
XM_011518717.1:c.4084del	XP_011517019.1:p.Glu1362SerfsTer21
NM_017617.5:c.4783del MANE Select	NP_060087.3:p.Glu1595SerfsTer21
XM_011518717.2:c.4060del	XP_011517019.2:p.Glu1354SerfsTer21