Canonical Allele Identifier: CA645543433
Community Standard Title: NM_017617.5(NOTCH1):c.4793_4794delinsCT (p.Arg1598Pro)
Gene: NOTCH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504897_136504898delinsAG , CM000671.2:g.136504897_136504898delinsAG GRCh38
NC_000009.11:g.139399349_139399350delinsAG , CM000671.1:g.139399349_139399350delinsAG GRCh37
NC_000009.10:g.138519170_138519171delinsAG NCBI36
NG_007458.1:g.45889_45890delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4793_4794delinsCT MANE Select NP_060087.3:p.Arg1598Pro
ENST00000651671.1:c.4793_4794delinsCT MANE Select ENSP00000498587.1:p.Arg1598Pro
NM_017617.3:c.4793_4794delinsCT NP_060087.3:p.Arg1598Pro
ENST00000277541.6:c.4793_4794delinsCT ENSP00000277541.6:p.Arg1598Pro
ENST00000645828.1:n.2600_2601delinsCT
ENST00000679595.1:c.4793_4794delinsCT ENSP00000506241.1:p.Arg1598Pro
ENST00000680133.1:c.4679_4680delinsCT ENSP00000505319.1:p.Arg1560Pro
ENST00000680218.1:c.4673_4674delinsCT ENSP00000505339.1:p.Arg1558Pro
ENST00000680668.1:c.4679_4680delinsCT ENSP00000506336.1:p.Arg1560Pro
ENST00000680778.1:c.2390_2391delinsCT ENSP00000506033.1:p.Arg797Pro
ENST00000680924.1:c.*2193_*2194delinsCT ENSP00000506031.1:n.*2193_*2194delinsCT
ENST00000681135.1:c.*2402_*2403delinsCT ENSP00000506636.1:n.*2402_*2403delinsCT
ENST00000681298.1:n.1606_1607delinsCT
ENST00000681454.1:c.*4029_*4030delinsCT ENSP00000505763.1:n.*4029_*4030delinsCT
XM_011518717.1:c.4094_4095delinsCT XP_011517019.1:p.Arg1365Pro
XM_011518717.2:c.4070_4071delinsCT XP_011517019.2:p.Arg1357Pro
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