Canonical Allele Identifier: CA3047143753
Community Standard Title: NM_017617.5(NOTCH1):c.4850_4851insGGG (p.Phe1617delinsLeuGly)
Gene: NOTCH1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504840_136504841insCCC , CM000671.2:g.136504840_136504841insCCC GRCh38
NC_000009.11:g.139399292_139399293insCCC , CM000671.1:g.139399292_139399293insCCC GRCh37
NC_000009.10:g.138519113_138519114insCCC NCBI36
NG_007458.1:g.45946_45947insGGG

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4850_4851insGGG MANE Select NP_060087.3:p.Phe1617delinsLeuGly
ENST00000651671.1:c.4850_4851insGGG MANE Select ENSP00000498587.1:p.Phe1617delinsLeuGly
NM_017617.3:c.4850_4851insGGG NP_060087.3:p.Phe1617delinsLeuGly
ENST00000277541.6:c.4850_4851insGGG ENSP00000277541.6:p.Phe1617delinsLeuGly
ENST00000494783.1:n.5_6insGGG
ENST00000645828.1:n.2657_2658insGGG
ENST00000679595.1:c.4850_4851insGGG ENSP00000506241.1:p.Phe1617delinsLeuGly
ENST00000680133.1:c.4736_4737insGGG ENSP00000505319.1:p.Phe1579delinsLeuGly
ENST00000680218.1:c.4730_4731insGGG ENSP00000505339.1:p.Phe1577delinsLeuGly
ENST00000680668.1:c.4736_4737insGGG ENSP00000506336.1:p.Phe1579delinsLeuGly
ENST00000680778.1:c.2447_2448insGGG ENSP00000506033.1:p.Phe816delinsLeuGly
ENST00000680924.1:c.*2250_*2251insGGG ENSP00000506031.1:n.*2250_*2251insGGG
ENST00000681135.1:c.*2459_*2460insGGG ENSP00000506636.1:n.*2459_*2460insGGG
ENST00000681298.1:n.1663_1664insGGG
ENST00000681454.1:c.*4086_*4087insGGG ENSP00000505763.1:n.*4086_*4087insGGG
XM_011518717.1:c.4151_4152insGGG XP_011517019.1:p.Phe1384delinsLeuGly
XM_011518717.2:c.4127_4128insGGG XP_011517019.2:p.Phe1376delinsLeuGly
Search 100 bp 5'
Search 100 bp 3'