Canonical Allele Identifier: CA645543384
Community Standard Title: NM_017617.5(NOTCH1):c.4849_4850delinsCC (p.Phe1617Pro)
Gene: NOTCH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504841_136504842delinsGG , CM000671.2:g.136504841_136504842delinsGG GRCh38
NC_000009.11:g.139399293_139399294delinsGG , CM000671.1:g.139399293_139399294delinsGG GRCh37
NC_000009.10:g.138519114_138519115delinsGG NCBI36
NG_007458.1:g.45945_45946delinsCC

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4849_4850delinsCC MANE Select NP_060087.3:p.Phe1617Pro
ENST00000651671.1:c.4849_4850delinsCC MANE Select ENSP00000498587.1:p.Phe1617Pro
NM_017617.3:c.4849_4850delinsCC NP_060087.3:p.Phe1617Pro
ENST00000277541.6:c.4849_4850delinsCC ENSP00000277541.6:p.Phe1617Pro
ENST00000494783.1:n.4_5delinsCC
ENST00000645828.1:n.2656_2657delinsCC
ENST00000679595.1:c.4849_4850delinsCC ENSP00000506241.1:p.Phe1617Pro
ENST00000680133.1:c.4735_4736delinsCC ENSP00000505319.1:p.Phe1579Pro
ENST00000680218.1:c.4729_4730delinsCC ENSP00000505339.1:p.Phe1577Pro
ENST00000680668.1:c.4735_4736delinsCC ENSP00000506336.1:p.Phe1579Pro
ENST00000680778.1:c.2446_2447delinsCC ENSP00000506033.1:p.Phe816Pro
ENST00000680924.1:c.*2249_*2250delinsCC ENSP00000506031.1:n.*2249_*2250delinsCC
ENST00000681135.1:c.*2458_*2459delinsCC ENSP00000506636.1:n.*2458_*2459delinsCC
ENST00000681298.1:n.1662_1663delinsCC
ENST00000681454.1:c.*4085_*4086delinsCC ENSP00000505763.1:n.*4085_*4086delinsCC
XM_011518717.1:c.4150_4151delinsCC XP_011517019.1:p.Phe1384Pro
XM_011518717.2:c.4126_4127delinsCC XP_011517019.2:p.Phe1376Pro
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