Canonical Allele Identifier: CA3047143757
Community Standard Title: NM_017617.5(NOTCH1):c.4847_4848insGGAGGATGGGAC (p.Ile1616delinsMetGluAspGlyThr)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504843_136504844insGTCCCATCCTCC , CM000671.2:g.136504843_136504844insGTCCCATCCTCC GRCh38
NC_000009.11:g.139399295_139399296insGTCCCATCCTCC , CM000671.1:g.139399295_139399296insGTCCCATCCTCC GRCh37
NC_000009.10:g.138519116_138519117insGTCCCATCCTCC NCBI36
NG_007458.1:g.45943_45944insGGAGGATGGGAC

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4847_4848insGGAGGATGGGAC MANE Select NP_060087.3:p.Ile1616delinsMetGluAspGlyThr
ENST00000651671.1:c.4847_4848insGGAGGATGGGAC MANE Select ENSP00000498587.1:p.Ile1616delinsMetGluAspGlyThr
NM_017617.3:c.4847_4848insGGAGGATGGGAC NP_060087.3:p.Ile1616delinsMetGluAspGlyThr
ENST00000277541.6:c.4847_4848insGGAGGATGGGAC ENSP00000277541.6:p.Ile1616delinsMetGluAspGlyThr
ENST00000494783.1:n.2_3insGGAGGATGGGAC
ENST00000645828.1:n.2654_2655insGGAGGATGGGAC
ENST00000679595.1:c.4847_4848insGGAGGATGGGAC ENSP00000506241.1:p.Ile1616delinsMetGluAspGlyThr
ENST00000680133.1:c.4733_4734insGGAGGATGGGAC ENSP00000505319.1:p.Ile1578delinsMetGluAspGlyThr
ENST00000680218.1:c.4727_4728insGGAGGATGGGAC ENSP00000505339.1:p.Ile1576delinsMetGluAspGlyThr
ENST00000680668.1:c.4733_4734insGGAGGATGGGAC ENSP00000506336.1:p.Ile1578delinsMetGluAspGlyThr
ENST00000680778.1:c.2444_2445insGGAGGATGGGAC ENSP00000506033.1:p.Ile815delinsMetGluAspGlyThr
ENST00000680924.1:c.*2247_*2248insGGAGGATGGGAC ENSP00000506031.1:n.*2247_*2248insGGAGGATGGGAC
ENST00000681135.1:c.*2456_*2457insGGAGGATGGGAC ENSP00000506636.1:n.*2456_*2457insGGAGGATGGGAC
ENST00000681298.1:n.1660_1661insGGAGGATGGGAC
ENST00000681454.1:c.*4083_*4084insGGAGGATGGGAC ENSP00000505763.1:n.*4083_*4084insGGAGGATGGGAC
XM_011518717.1:c.4148_4149insGGAGGATGGGAC XP_011517019.1:p.Ile1383delinsMetGluAspGlyThr
XM_011518717.2:c.4124_4125insGGAGGATGGGAC XP_011517019.2:p.Ile1375delinsMetGluAspGlyThr