Canonical Allele Identifier: CA3047143752
Community Standard Title: NM_017617.5(NOTCH1):c.4850_4851insTGTAGG (p.Phe1617_Pro1618insValGly)
Gene: NOTCH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504840_136504841insCCTACA , CM000671.2:g.136504840_136504841insCCTACA GRCh38
NC_000009.11:g.139399292_139399293insCCTACA , CM000671.1:g.139399292_139399293insCCTACA GRCh37
NC_000009.10:g.138519113_138519114insCCTACA NCBI36
NG_007458.1:g.45946_45947insTGTAGG

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4850_4851insTGTAGG MANE Select NP_060087.3:p.Phe1617_Pro1618insValGly
ENST00000651671.1:c.4850_4851insTGTAGG MANE Select ENSP00000498587.1:p.Phe1617_Pro1618insValGly
NM_017617.3:c.4850_4851insTGTAGG NP_060087.3:p.Phe1617_Pro1618insValGly
ENST00000277541.6:c.4850_4851insTGTAGG ENSP00000277541.6:p.Phe1617_Pro1618insValGly
ENST00000494783.1:n.5_6insTGTAGG
ENST00000645828.1:n.2657_2658insTGTAGG
ENST00000679595.1:c.4850_4851insTGTAGG ENSP00000506241.1:p.Phe1617_Pro1618insValGly
ENST00000680133.1:c.4736_4737insTGTAGG ENSP00000505319.1:p.Phe1579_Pro1580insValGly
ENST00000680218.1:c.4730_4731insTGTAGG ENSP00000505339.1:p.Phe1577_Pro1578insValGly
ENST00000680668.1:c.4736_4737insTGTAGG ENSP00000506336.1:p.Phe1579_Pro1580insValGly
ENST00000680778.1:c.2447_2448insTGTAGG ENSP00000506033.1:p.Phe816_Pro817insValGly
ENST00000680924.1:c.*2250_*2251insTGTAGG ENSP00000506031.1:n.*2250_*2251insTGTAGG
ENST00000681135.1:c.*2459_*2460insTGTAGG ENSP00000506636.1:n.*2459_*2460insTGTAGG
ENST00000681298.1:n.1663_1664insTGTAGG
ENST00000681454.1:c.*4086_*4087insTGTAGG ENSP00000505763.1:n.*4086_*4087insTGTAGG
XM_011518717.1:c.4151_4152insTGTAGG XP_011517019.1:p.Phe1384_Pro1385insValGly
XM_011518717.2:c.4127_4128insTGTAGG XP_011517019.2:p.Phe1376_Pro1377insValGly
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