Canonical Allele Identifier: CA2692634248

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504761-GGGCGTCAGGTGCGGCCCAGCCCTCGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504765_136504791del , CM000671.2:g.136504765_136504791del	GRCh38
NC_000009.11:g.139399217_139399243del , CM000671.1:g.139399217_139399243del	GRCh37
NC_000009.10:g.138519038_138519064del	NCBI36
NG_007458.1:g.45999_46025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2710_2736del
ENST00000651671.1:c.4903_4929del MANE Select	ENSP00000498587.1:p.Ala1635_Ala1643del
ENST00000679595.1:c.4903_4929del	ENSP00000506241.1:p.Ala1635_Ala1643del
ENST00000680133.1:c.4789_4815del	ENSP00000505319.1:p.Ala1597_Ala1605del
ENST00000680218.1:c.4783_4809del	ENSP00000505339.1:p.Ala1595_Ala1603del
ENST00000680668.1:c.4789_4815del	ENSP00000506336.1:p.Ala1597_Ala1605del
ENST00000680778.1:c.2500_2526del	ENSP00000506033.1:p.Ala834_Ala842del
ENST00000680924.1:c.*2303_*2329del	ENSP00000506031.1:n.*2303_*2329del
ENST00000681135.1:c.*2512_*2538del	ENSP00000506636.1:n.*2512_*2538del
ENST00000681298.1:n.1716_1742del
ENST00000681454.1:c.*4139_*4165del	ENSP00000505763.1:n.*4139_*4165del
ENST00000277541.6:c.4903_4929del	ENSP00000277541.6:p.Ala1635_Ala1643del
ENST00000494783.1:n.58_84del
NM_017617.3:c.4903_4929del	NP_060087.3:p.Ala1635_Ala1643del
XM_011518717.1:c.4204_4230del	XP_011517019.1:p.Ala1402_Ala1410del
NM_017617.5:c.4903_4929del MANE Select	NP_060087.3:p.Ala1635_Ala1643del
XM_011518717.2:c.4180_4206del	XP_011517019.2:p.Ala1394_Ala1402del