Canonical Allele Identifier: CA1130025847

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1843054062
• gnomAD v3: 9-136504863-CG-C
• gnomAD v4: 9-136504863-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504864del , CM000671.2:g.136504864del	GRCh38
NC_000009.11:g.139399316del , CM000671.1:g.139399316del	GRCh37
NC_000009.10:g.138519137del	NCBI36
NG_007458.1:g.45923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2634del
ENST00000651671.1:c.4827del MANE Select	ENSP00000498587.1:p.Asp1609GlufsTer7
ENST00000679595.1:c.4827del	ENSP00000506241.1:p.Asp1609GlufsTer7
ENST00000680133.1:c.4713del	ENSP00000505319.1:p.Asp1571GlufsTer7
ENST00000680218.1:c.4707del	ENSP00000505339.1:p.Asp1569GlufsTer7
ENST00000680668.1:c.4713del	ENSP00000506336.1:p.Asp1571GlufsTer7
ENST00000680778.1:c.2424del	ENSP00000506033.1:p.Asp808GlufsTer7
ENST00000680924.1:c.*2227del	ENSP00000506031.1:n.*2227del
ENST00000681135.1:c.*2436del	ENSP00000506636.1:n.*2436del
ENST00000681298.1:n.1640del
ENST00000681454.1:c.*4063del	ENSP00000505763.1:n.*4063del
ENST00000277541.6:c.4827del	ENSP00000277541.6:p.Asp1609GlufsTer7
NM_017617.3:c.4827del	NP_060087.3:p.Asp1609GlufsTer7
XM_011518717.1:c.4128del	XP_011517019.1:p.Asp1376GlufsTer7
NM_017617.5:c.4827del MANE Select	NP_060087.3:p.Asp1609GlufsTer7
XM_011518717.2:c.4104del	XP_011517019.2:p.Asp1368GlufsTer7