Canonical Allele Identifier: CA2692632687

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136497162-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497163del , CM000671.2:g.136497163del	GRCh38
NC_000009.11:g.139391615del , CM000671.1:g.139391615del	GRCh37
NC_000009.10:g.138511436del	NCBI36
NG_007458.1:g.53624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6576del MANE Select	ENSP00000498587.1:p.Asp2192GlufsTer?
ENST00000679595.1:c.*1616del	ENSP00000506241.1:n.*1616del
ENST00000679969.1:n.3172del
ENST00000680003.1:n.2908del
ENST00000680133.1:c.6462del	ENSP00000505319.1:p.Asp2154GlufsTer?
ENST00000680218.1:c.6456del	ENSP00000505339.1:p.Asp2152GlufsTer?
ENST00000680668.1:c.6462del	ENSP00000506336.1:p.Asp2154GlufsTer?
ENST00000680778.1:c.4173del	ENSP00000506033.1:p.Asp1391GlufsTer?
ENST00000680924.1:c.*3976del	ENSP00000506031.1:n.*3976del
ENST00000681135.1:c.*4185del	ENSP00000506636.1:n.*4185del
ENST00000681298.1:n.4681del
ENST00000681454.1:c.*5812del	ENSP00000505763.1:n.*5812del
ENST00000277541.6:c.6576del	ENSP00000277541.6:p.Asp2192GlufsTer?
NM_017617.3:c.6576del	NP_060087.3:p.Asp2192GlufsTer?
XM_011518717.1:c.5877del	XP_011517019.1:p.Asp1959GlufsTer?
NM_017617.5:c.6576del MANE Select	NP_060087.3:p.Asp2192GlufsTer?
XM_011518717.2:c.5853del	XP_011517019.2:p.Asp1951GlufsTer?