Canonical Allele Identifier: CA467832709
Community Standard Title: NM_017617.5(NOTCH1):c.4848del (p.Phe1617SerfsTer?)
Gene: NOTCH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504843del , CM000671.2:g.136504843del GRCh38
NC_000009.11:g.139399295del , CM000671.1:g.139399295del GRCh37
NC_000009.10:g.138519116del NCBI36
NG_007458.1:g.45944del

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4848del MANE Select NP_060087.3:p.Phe1617SerfsTer?
ENST00000651671.1:c.4848del MANE Select ENSP00000498587.1:p.Phe1617SerfsTer?
NM_017617.3:c.4848del NP_060087.3:p.Phe1617SerfsTer?
ENST00000277541.6:c.4848del ENSP00000277541.6:p.Phe1617SerfsTer?
ENST00000494783.1:n.3del
ENST00000645828.1:n.2655del
ENST00000679595.1:c.4848del ENSP00000506241.1:p.Phe1617SerfsTer?
ENST00000680133.1:c.4734del ENSP00000505319.1:p.Phe1579SerfsTer?
ENST00000680218.1:c.4728del ENSP00000505339.1:p.Phe1577SerfsTer?
ENST00000680668.1:c.4734del ENSP00000506336.1:p.Phe1579SerfsTer?
ENST00000680778.1:c.2445del ENSP00000506033.1:p.Phe816SerfsTer?
ENST00000680924.1:c.*2248del ENSP00000506031.1:n.*2248del
ENST00000681135.1:c.*2457del ENSP00000506636.1:n.*2457del
ENST00000681298.1:n.1661del
ENST00000681454.1:c.*4084del ENSP00000505763.1:n.*4084del
XM_011518717.1:c.4149del XP_011517019.1:p.Phe1384SerfsTer?
XM_011518717.2:c.4125del XP_011517019.2:p.Phe1376SerfsTer?
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