Canonical Allele Identifier: CA645543386
Community Standard Title: NM_017617.5(NOTCH1):c.4848delinsGGAA (p.Ile1616delinsMetGlu)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504843delinsTTCC , CM000671.2:g.136504843delinsTTCC GRCh38
NC_000009.11:g.139399295delinsTTCC , CM000671.1:g.139399295delinsTTCC GRCh37
NC_000009.10:g.138519116delinsTTCC NCBI36
NG_007458.1:g.45944delinsGGAA

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4848delinsGGAA MANE Select NP_060087.3:p.Ile1616delinsMetGlu
ENST00000651671.1:c.4848delinsGGAA MANE Select ENSP00000498587.1:p.Ile1616delinsMetGlu
NM_017617.3:c.4848delinsGGAA NP_060087.3:p.Ile1616delinsMetGlu
ENST00000277541.6:c.4848delinsGGAA ENSP00000277541.6:p.Ile1616delinsMetGlu
ENST00000494783.1:n.3delinsGGAA
ENST00000645828.1:n.2655delinsGGAA
ENST00000679595.1:c.4848delinsGGAA ENSP00000506241.1:p.Ile1616delinsMetGlu
ENST00000680133.1:c.4734delinsGGAA ENSP00000505319.1:p.Ile1578delinsMetGlu
ENST00000680218.1:c.4728delinsGGAA ENSP00000505339.1:p.Ile1576delinsMetGlu
ENST00000680668.1:c.4734delinsGGAA ENSP00000506336.1:p.Ile1578delinsMetGlu
ENST00000680778.1:c.2445delinsGGAA ENSP00000506033.1:p.Ile815delinsMetGlu
ENST00000680924.1:c.*2248delinsGGAA ENSP00000506031.1:n.*2248delinsGGAA
ENST00000681135.1:c.*2457delinsGGAA ENSP00000506636.1:n.*2457delinsGGAA
ENST00000681298.1:n.1661delinsGGAA
ENST00000681454.1:c.*4084delinsGGAA ENSP00000505763.1:n.*4084delinsGGAA
XM_011518717.1:c.4149delinsGGAA XP_011517019.1:p.Ile1383delinsMetGlu
XM_011518717.2:c.4125delinsGGAA XP_011517019.2:p.Ile1375delinsMetGlu