Canonical Allele Identifier: CA2961399151
Community Standard Title: NM_017617.5(NOTCH1):c.4854dup (p.Tyr1619LeufsTer24)
Gene: NOTCH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504840dup , CM000671.2:g.136504840dup GRCh38
NC_000009.11:g.139399292dup , CM000671.1:g.139399292dup GRCh37
NC_000009.10:g.138519113dup NCBI36
NG_007458.1:g.45950dup

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4854dup MANE Select NP_060087.3:p.Tyr1619LeufsTer24
ENST00000651671.1:c.4854dup MANE Select ENSP00000498587.1:p.Tyr1619LeufsTer24
NM_017617.3:c.4854dup NP_060087.3:p.Tyr1619LeufsTer24
ENST00000277541.6:c.4854dup ENSP00000277541.6:p.Tyr1619LeufsTer24
ENST00000494783.1:n.9dup
ENST00000645828.1:n.2661dup
ENST00000679595.1:c.4854dup ENSP00000506241.1:p.Tyr1619LeufsTer24
ENST00000680133.1:c.4740dup ENSP00000505319.1:p.Tyr1581LeufsTer24
ENST00000680218.1:c.4734dup ENSP00000505339.1:p.Tyr1579LeufsTer24
ENST00000680668.1:c.4740dup ENSP00000506336.1:p.Tyr1581LeufsTer24
ENST00000680778.1:c.2451dup ENSP00000506033.1:p.Tyr818LeufsTer24
ENST00000680924.1:c.*2254dup ENSP00000506031.1:n.*2254dup
ENST00000681135.1:c.*2463dup ENSP00000506636.1:n.*2463dup
ENST00000681298.1:n.1667dup
ENST00000681454.1:c.*4090dup ENSP00000505763.1:n.*4090dup
XM_011518717.1:c.4155dup XP_011517019.1:p.Tyr1386LeufsTer24
XM_011518717.2:c.4131dup XP_011517019.2:p.Tyr1378LeufsTer24
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