Canonical Allele Identifier: CA645543436

Gene: NOTCH1

Linked Data

• COSMIC: COSM4606348

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504899_136504900insCTC , CM000671.2:g.136504899_136504900insCTC	GRCh38
NC_000009.11:g.139399351_139399352insCTC , CM000671.1:g.139399351_139399352insCTC	GRCh37
NC_000009.10:g.138519172_138519173insCTC	NCBI36
NG_007458.1:g.45887_45888insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2598_2599insGAG
ENST00000651671.1:c.4791_4792insGAG MANE Select	ENSP00000498587.1:p.Ser1597_Arg1598insGlu
ENST00000679595.1:c.4791_4792insGAG	ENSP00000506241.1:p.Ser1597_Arg1598insGlu
ENST00000680133.1:c.4677_4678insGAG	ENSP00000505319.1:p.Ser1559_Arg1560insGlu
ENST00000680218.1:c.4671_4672insGAG	ENSP00000505339.1:p.Ser1557_Arg1558insGlu
ENST00000680668.1:c.4677_4678insGAG	ENSP00000506336.1:p.Ser1559_Arg1560insGlu
ENST00000680778.1:c.2388_2389insGAG	ENSP00000506033.1:p.Ser796_Arg797insGlu
ENST00000680924.1:c.*2191_*2192insGAG	ENSP00000506031.1:n.*2191_*2192insGAG
ENST00000681135.1:c.*2400_*2401insGAG	ENSP00000506636.1:n.*2400_*2401insGAG
ENST00000681298.1:n.1604_1605insGAG
ENST00000681454.1:c.*4027_*4028insGAG	ENSP00000505763.1:n.*4027_*4028insGAG
ENST00000277541.6:c.4791_4792insGAG	ENSP00000277541.6:p.Ser1597_Arg1598insGlu
NM_017617.3:c.4791_4792insGAG	NP_060087.3:p.Ser1597_Arg1598insGlu
XM_011518717.1:c.4092_4093insGAG	XP_011517019.1:p.Ser1364_Arg1365insGlu
NM_017617.5:c.4791_4792insGAG MANE Select	NP_060087.3:p.Ser1597_Arg1598insGlu
XM_011518717.2:c.4068_4069insGAG	XP_011517019.2:p.Ser1356_Arg1357insGlu