Canonical Allele Identifier: CA645543381
Community Standard Title: NM_017617.5(NOTCH1):c.4849_4851del (p.Phe1617del)
Gene: NOTCH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504842_136504844del , CM000671.2:g.136504842_136504844del GRCh38
NC_000009.11:g.139399294_139399296del , CM000671.1:g.139399294_139399296del GRCh37
NC_000009.10:g.138519115_138519117del NCBI36
NG_007458.1:g.45945_45947del

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4849_4851del MANE Select NP_060087.3:p.Phe1617del
ENST00000651671.1:c.4849_4851del MANE Select ENSP00000498587.1:p.Phe1617del
NM_017617.3:c.4849_4851del NP_060087.3:p.Phe1617del
ENST00000277541.6:c.4849_4851del ENSP00000277541.6:p.Phe1617del
ENST00000494783.1:n.4_6del
ENST00000645828.1:n.2656_2658del
ENST00000679595.1:c.4849_4851del ENSP00000506241.1:p.Phe1617del
ENST00000680133.1:c.4735_4737del ENSP00000505319.1:p.Phe1579del
ENST00000680218.1:c.4729_4731del ENSP00000505339.1:p.Phe1577del
ENST00000680668.1:c.4735_4737del ENSP00000506336.1:p.Phe1579del
ENST00000680778.1:c.2446_2448del ENSP00000506033.1:p.Phe816del
ENST00000680924.1:c.*2249_*2251del ENSP00000506031.1:n.*2249_*2251del
ENST00000681135.1:c.*2458_*2460del ENSP00000506636.1:n.*2458_*2460del
ENST00000681298.1:n.1662_1664del
ENST00000681454.1:c.*4085_*4087del ENSP00000505763.1:n.*4085_*4087del
XM_011518717.1:c.4150_4152del XP_011517019.1:p.Phe1384del
XM_011518717.2:c.4126_4128del XP_011517019.2:p.Phe1376del
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