Canonical Allele Identifier: CA645543383
Community Standard Title: NM_017617.5(NOTCH1):c.4850_4851insTGAACCCCC (p.Phe1617_Pro1618insGluProPro)
Gene: NOTCH1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504840_136504841insGGGGGTTCA , CM000671.2:g.136504840_136504841insGGGGGTTCA GRCh38
NC_000009.11:g.139399292_139399293insGGGGGTTCA , CM000671.1:g.139399292_139399293insGGGGGTTCA GRCh37
NC_000009.10:g.138519113_138519114insGGGGGTTCA NCBI36
NG_007458.1:g.45946_45947insTGAACCCCC

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4850_4851insTGAACCCCC MANE Select NP_060087.3:p.Phe1617_Pro1618insGluProPro
ENST00000651671.1:c.4850_4851insTGAACCCCC MANE Select ENSP00000498587.1:p.Phe1617_Pro1618insGluProPro
NM_017617.3:c.4850_4851insTGAACCCCC NP_060087.3:p.Phe1617_Pro1618insGluProPro
ENST00000277541.6:c.4850_4851insTGAACCCCC ENSP00000277541.6:p.Phe1617_Pro1618insGluProPro
ENST00000494783.1:n.5_6insTGAACCCCC
ENST00000645828.1:n.2657_2658insTGAACCCCC
ENST00000679595.1:c.4850_4851insTGAACCCCC ENSP00000506241.1:p.Phe1617_Pro1618insGluProPro
ENST00000680133.1:c.4736_4737insTGAACCCCC ENSP00000505319.1:p.Phe1579_Pro1580insGluProPro
ENST00000680218.1:c.4730_4731insTGAACCCCC ENSP00000505339.1:p.Phe1577_Pro1578insGluProPro
ENST00000680668.1:c.4736_4737insTGAACCCCC ENSP00000506336.1:p.Phe1579_Pro1580insGluProPro
ENST00000680778.1:c.2447_2448insTGAACCCCC ENSP00000506033.1:p.Phe816_Pro817insGluProPro
ENST00000680924.1:c.*2250_*2251insTGAACCCCC ENSP00000506031.1:n.*2250_*2251insTGAACCCCC
ENST00000681135.1:c.*2459_*2460insTGAACCCCC ENSP00000506636.1:n.*2459_*2460insTGAACCCCC
ENST00000681298.1:n.1663_1664insTGAACCCCC
ENST00000681454.1:c.*4086_*4087insTGAACCCCC ENSP00000505763.1:n.*4086_*4087insTGAACCCCC
XM_011518717.1:c.4151_4152insTGAACCCCC XP_011517019.1:p.Phe1384_Pro1385insGluProPro
XM_011518717.2:c.4127_4128insTGAACCCCC XP_011517019.2:p.Phe1376_Pro1377insGluProPro
Search 100 bp 5'
Search 100 bp 3'